Heterozygote Scanning Of Human Genetic Disorders

Gene	# Samp	Amplicon			Dye	Inst	Heterozygote				Homozygote		Title	Author	Year	Ref Links	Email
			Length				Sensitivity		Specificity		Sensitivity
		#	min	max			%	#	%	#	%	#
	10	4			SYBR Green	CFX96							A simple and efficient method for CRISPR/Cas9-induced mutant screening	Hua, Wang, Huang, Wang	2017
	1041	1				Rapid Cycler							Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in..	Zhang, Du, Geng, Chu, Lu, Shen, Chen, Fang, Feng, Zhang, Chen, Zhou, Wang, Jia	2017
	8	2	242	243	EvaGreen	RG							High-Resolution Melting (HRM) of Hypervariable Mitochondrial DNA Regions..	Dos Santos Rocha, de Amorim, Simão, da Fonseca, Garrido, Mencalha	2018
NPY and NPY2R	300	9				LC480							Evaluation of a Role for NPY and NPY2R in the Pathogenesis of Obesity by..	Aerts, Geets, Sorber, Beckers, Verrijken, Massa, Van Hoorenbeeck, Verhulst, Van Gaal, Van Hul	2018
α-globin	54	3	172	264	LCGreen Plus								Screening for mutations in the α -globin genes leading to abnormal..	Liu	2012
α-thal	80	1	106	106	LCGreen Plus	LS							High-resolution melting analysis of the three common nondeletional..	Li	2010
23S rRNA	179	2	67	147	SYTO 9	LC480							Transmission and Selection of Macrolide Resistant Mycoplasma genitalium..	Twin, Jensen, Bradshaw, Garland, Fairley, Min, Tabrizi	2012
28 genes	180				ResoLight	LC480							High resolution melting: improvements in the genetic diagnosis of..	Santos, Marques, Pires, Silveira, Oliveira, Lança, Brito, Madeira, Esteves, Freitas, Carreira, Gaspar, Monteiro, Fernandes	2012
32 Genes	13					LC480							Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry..	Santos	2011
?-globin	7	3	99	232	ResoLight	LC480							Scanning for ?-Hemoglobin Variants by High-Resolution Melting Analysis	Yimniam, Jindadamrongwech	2016
A1BG/BRG1, ACTN2, ADMTS1, ANKRD1, ANKRD2, BMP4, BMP7, BMP9/GDF2, BMP10, BMP14/GDF5, BMPR1a, BMPR1b, BMPR2, CAV3, CDKN1C, CSRP3, DAG1, DES, DSG2, DSP, ERBB2, ERBB4, FGF1, FGF2, FGF4, FGF8, FGF9, FGF10, Fgf16, Fgf18, FGF20, FKBP1A, LMNA, MYOZ1, Nkx2-5, NRG1	230	50	150	200	Syto 9	ABI 7500							Familial Left Ventricular Non-Compaction Is Associated With a Rare p.V407I..	Hirono, Saito, Munkhsaikhan, Xu, Wang, Lu, Ichida, Towbin, Purevjav	2019
aac(6)-Ib-cr	1	2	73	74	SYBR Green I	RG							High-Resolution Melt Curve Analysis for Identification of Single..	Hidalgo-Grass	2010
ABCA4	420												Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal..	Riveiro-Alvarez, Lopez-Martinez, Zernant, Aguirre-Lamban, Cantalapiedra, Avila-Fernandez, Gimenez, Lopez-Molina, Garcia-Sandoval, Blanco-Kelly, Corton, Tatu, Fernandez-San Jose, Trujillo-Tiebas, Ramos, Allikmets, Ayuso	2013
ABCA4	80				LCGreen Plus	LS							Phenotypic and genetic spectrum of Danish patients with ABCA4-related..	Duno	2012
ABCA4	58												Comparison of High-Resolution Melting Analysis with Denaturing..	Aguirre-Lamban	2010
ABCA4	30												Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the..	Bertelsen	2014
ABCB11	20	27	113	321	LCGreen Plus	LS							Diagnosis of ABCB11 gene mutations in children with intrahepatic..	Hu	2014
ABCC1	190	51	99	248	LCGreen Plus	CFX384							Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance..	Słomka, Sobalska-Kwapis, Korycka-Machała, Bartosz, Dziadek, Strapagiel	2015
ABCG2	510	1			EvaGreen	RG							Defining the Jr(a–) phenotype in the Japanese population	Tanaka, Kamada, Takahashi, Kimura, Tani	2013
ACAD9, FOXRED1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS4 and NDUFS6.	152	266			LCGreen Plus	LS							Mutation screening of 75 candidate genes in 152 complex I deficiency cases..	Haack	2012
ACADM	18	13	129	223	SYBR Green I	HR-1					0		Rapid, comprehensive screening of the human medium chain acyl-CoA..	McKinney, Longo, Hahn, Matern, Rinaldo, Strauss, Dobrowolski	2004
ACADVL	146	20			LCGreen Plus	LS							High-resolution melting analysis, a simple and effective method for..	Olsen	2010
ACTA2	548	11	144	235	SYTO 9	RG							Alpha-actin-2 mutations in Chinese patients with a non-syndromatic..	Ke, Han, Zhao, Wang, Zhang, Zhao, Ruan, Li, Xu, Sun	2016
ACTN2	283	21	197	331	LCGreen Plus	LS							Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a..	Chiu, Bagnall, Ingles, Yeates, Kennerson, Donald, Jormakka, Lind, Semsarian	2010
ACTN4	248	2			ResoLight	LC480							Mutational Analysis of ACTN4, Encoding ?-Actinin 4, in Patients with Focal..	Safa?íková, Reiterová, Safránková, Stekrová, Zidková, Obeidová, Kohoutová, Tesa?	2013
ACVRL1	22	12	184	302	SYBR Green I	HR-1	96.4	28			0		Identifying Common Genetic Variants by High-Resolution Melting.	Vandersteen, Bayrak-Toydemir, Palais, Wittwer	2007
ADAMTSL4	68				EvaGreen	RG							ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation..	van Bysterveldt, Al Taie, Ikink, Oliver, Vincent	2017
alpha-globin	672	2			SYBR Green I	RG							Criteria for detection of alpha-thalassemia-1 Thai type deletion in..	Pornprasert, Punyamung, Treesuwan	2013
alpha-globin, HBB	220	4	116	180	SYTO 9	7500 Fast	100	880	100	880			A novel gap-PCR with high resolution melting analysis for the detection of..	Kho, Chua, George, Tan	2015
alpha2-globin	114	2	180	253	SYBR Green I								Unmasking Hb Paksé (codon 142, TAA>TAT, ?2) and its combinations in..	Pornprasert, Panyasai, Treesuwan	2012
ALPL	3844					LS							Prevalence of c.1559delT in ALPL, a common mutation resulting in the..	Watanabe	2011
ANO3, GNAL	718	36				LS							Rare Sequence Variants in ANO3 and GNAL in a Primary Torsion Dystonia..	Zech, Gross, Jochim, Castrop, Kaffe, Dresel, Lichtner, Peters, Gieger, Meitinger, Haslinger, Winkelmann	2013
APC	171	61	150	300	LCGreen Plus	LS	99	116					High-resolution melting (HRM) re-analysis of a polyposis patients cohort..	Out	2015
apo(a)	1029				ResoLight	LC480							The apo(a) gene (TTTTA)n promoter polymorphism and its association with..	Hirschfeldova	2009
APOA1	1	5	116	327	EvaGreen	RG	100	5	100	5			Optimization of PCR Condition: The First Study of High Resolution Melting..	Wahyuningsih, K Cayami, Bahrudin, A Sobirin, Ep Mundhofir, Mh Faradz, Hisatome	2017
APOB	35	2	156	365	EvaGreen	HR-1							High-resolution melting analysis for detection of familial..	Liyanage	2008
APOB, PCSK9	30	25			LCGreen Plus, SYTO 9	RG							Development of a high-resolution melting method for mutation detection in..	Whittall	2010
ApoE	924				EvaGreen	LC480							The Association between Apolipoprotein E Gene Polymorphism and Mild..	Wang	2014
ATM	1356	2	350	350	LCGreen Plus (0.48X)	LS					0		Description and validation of high-throughput simultaneous genotyping and..	Nguyen-Dumont, Calvez-Kelm, Forey, McKay-Chopin, Garritano, Gioia-Patricola, De Silva, Weigel, BCFR, kConFab, Sangrajrang, Lesueur, Tavtigian	2009
ATM, CFTR, HFE	20	1	84	84	LCGreen Plus	HR-1							Solution-phase DNA mutation scanning and SNP genotyping by nanoliter..	Sundberg	2007
ATP7A	3				LCGreen Plus	LS							Molecular Diagnostics of Copper-Transporting Protein Mutations Allows..	Králík, Flachsová, Hansíková, Saudek, Zeman, Martásek	2017
ATP7B	14	26	165	381	ResoLight	LC480							Development of a high-resolution melting method for the screening of..	Lin	2010
ATP7B	30		73	520	SYTO 9	HR-1	100	19	100	19			Rapid detection of common ATP7B mutation in Wilson disease by high..	Zhao	2008
AURKB, SYCP3	202	3			Resolight	LC480							Mutation screening of AURKB and SYCP3 in patients with reproductive..	Lopez-Carrasco, Oltra, Monfort, Mayo, Rosello, Martinez, Orellana	2013
AZF	54					RG							Association of azoospermia factor region deletions in infertile male..	Hussein	2014
AZFc	115	2	385	527	EvaGreen	RG							Analysis of partial AZFc deletions in Malaysian infertile male subjects	Almeamar, Ramachandran, Ismail, Nadkarni, Fawzi	2013
AZFc	230				SYBR Green I, EvaGreen, SYTO 9	RG							High-Throughput Screening for Spermatogenesis Candidate Genes in the AZFc..	Alechine	2014
b-thalassemia	50	1			EvaGreen	RG	92.6		82.6				High-resolution melting analysis for noninvasive prenatal diagnosis of..	Zafari, Gill, Kowsaryan, Alipour, Banihashemi	2015
BAMBI	1206				LCGreen Plus	LC480							Investigation of common and rare genetic variation in the BAMBI genomic..	Van Camp, De Freitas, Zegers, Beckers, Verhulst, Van Hoorenbeeck, Massa, Verrijken, Desager, Van Gaal, Van Hul	2016
BANK1	264	3			SYTO 9	RG							Identification of BANK1 polymorphisms by unlabelled probe high resolution..	Guan	2011
BAT25, BAT26, BCAT25, MYB, EWSR1, MLH1	187				EvaGreen	ABI 7500							N_LyST: a simple and rapid screening test for Lynch syndrome	Susanti, Fadhil, Ebili, Asiri, Nestarenkaite, Hadjimichael, Ham-Karim, Field, Stafford, Matharoo-Ball, Hassall, Sharif, Oniscu, Ilyas	2018
BCR–ABL1	112	3	100	170	SYBR Green I	RG							Early detection and quantification of mutations in the tyrosine kinase..	Ferri, Bianchini, Icardi, Belli, Bengio, & Larripa	2013
BDNF	1119	7			LCGreen Plus	LC480							Screening for genetic variants in BDNF that contribute to childhood obesity	Zegers, Hendrickx, Verrijken, Van Hoorenbeeck, Van Camp, de Craemer, Rooman, Desager, Massa, Van Gaal, Van Hul, Beckers	2013
beta(0)-thal	102	4	239	535	SYTO 9, SYBR Green I	RG							SYTO9 and SYBR GREEN1 with high resolution melting analysis for molecular..	Chamras	2009
BICD2	360												BICD2 Mutational Analysis in Hereditary Spastic Paraplegia and Hereditary..	Kropatsch, Schmidt, Buttkereit, Epplen, Hoffjan	2019
BRAF, IDH1, KRAS, JAK2	10				LCGreen Plus								Multiplexed Elimination of Wild-Type DNA and High-Resolution Melting Prior..	Ladas, Fitarelli-Kiehl, Song, Adalsteinsson, Parsons, Lin, Wagle, Makrigiorgos	2017
BRAF, KRAS	182				SYTO 9	LC480							Genotyping by Induced F¨ orster Resonance Energy Transfer (iFRET)..	Masojc, Górski, van de Wetering, D?bniak, Cybulski, Jakubowska, M?drek, Rudnicka, Dwight, Lubi?ski	2013
BRCA, TP53, CHEK2	44			350	EvaGreen	Eco							Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk..	Cipriano, de Brito, de Oliveira, de Faria, Lemos, Rodrigues, Lopes, dos Santos	2019
BRCA1	198	40	217	420	LCGreen Plus	LS	100	180	97.6	934	92.9	28	Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an..	Van Der Stoep, van Paridon, Krenkova, Stambergova, Macek, Bakker	2009
BRCA1 and BRCA2	384	94			LCGreen Plus	LC480	99.8	1595	99.4	21070			A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2..	Hondow	2011
BRCA1 and BRCA2	52	112	136	356	ResoLight	LC480							Advantage of high-resolution melting curve analysis over..	de Juan Jiménez	2011
BRCA1 and BRCA2	165	79	155	490	ResoLight	LC480							A One-Step Prescreening for Point Mutations and Large Rearrangement in..	Coulet	2010
BRCA1 and BRCA2	87	46	95	280	ResoLight	LC480							High-resolution melting analysis for rapid screening of BRCA1 and BRCA2..	de Juan	2009
BRCA1 and BRCA2	22	112	136	435	LCGreen Plus	LC480							Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic..	De Leeneer	2008
BRCA1, BRCA2	250				Resolight	LC480							BRCA1 and BRCA2 Germline Mutation Screening in Western Algeria using High..	Boulenouar, Coulet, Bendiab, Boudinar, Senhadji	2018
BRCA1/2	29	3	159	534	ResoLight	LC480	100	29			0		Rapid detection of carriers with BRCA1 and BRCA2 mutations using high..	Takano, Mitchell, Fox, Dobrovic	2008
BRCA1/BRCA2	192	21				LC480							Advantages of the high resolution melting in the detection of BRCA1 or..	de Juan Jiménez	2009
c-kit	72	2	137	219	ResoLight	LC480	100	10	100	10	100	1	Rapid Detection of KIT Mutation in Cor-Binding Factor Acute Myeloid..	Fuster, Barragan, Bolufer, Cervera, Larrayoz, Jimenez-Velasco, Martínez-Lopez, Valencia, Moscardo, Angel Sanz	2009
C19orf12 and WDR45	69	16	185	483	LCGreen Plus	LS							Analysis of the C19orf12 and WDR45 genes in patients with..	Tschentscher	2015
C2ORF71	286				LCGreen Plus	LS							A Survey of DNA Variation of C2ORF71 in Probands with Progressive..	Sergouniotis	2011
CALR	298	1	255	255	ResoLight	LC480	96.4		96.3				Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of..	Park, Sevin, Ramla, Truffot, Verrier, Bouchot, Courtois, Bas, Benali, Bailly, Favre, Guy, Martin, Maynadié, Carillo, Girodon	2015
CALR	153	1	265	265	ResoLight	LC480							High Resolution Melting Analysis: A Rapid and Accurate Method to Detect..	Bilbao-Sieyro	2014
CALR	102	1	298	298	ResoLight	LC480							Calreticulin mutations in myeloproliferative neoplasms and new methodology..	Chi	2015
CALR	32	1	134	134	EvaGreen	CFX96							Rapid and sensitive detection of CALR exon 9 mutations using..	Lim	2015
CALR	23	1			LCGreen Plus	RG							Evaluation of methods to detect CALR mutations in myeloproliferative..	Jones	2015
CALR	192	1	204	204	Resolight	Cobas 480							Detection of CALR Mutations Using High Resolution Melting Curve Analysis..	Giannopoulos, Rougkala, Loupis, Mantzourani, Viniou, Variami, Vassilakopoulos, Dryllis, Kotsianidis, Gougopoulou, Politou, Konstantopoulos, Vassilopoulos	2019
CALR, JAK2V617F	28	1			Syto 9	CFX96							Calreticulin mutation analysis in non-mutated Janus kinase 2 essential..	Rattarittamrong, Tantiworawit, Kumpunya, Wongtagan, Tongphung, Phusua, Chai-Adisaksopha, Hantrakool, Rattanathammethee, Norasetthada, Charoenkwan, Lekawanvijit	2018
CALR, MPL, JAK2	388												Distinct clinical characteristics of myeloproliferative neoplasms with..	Andrikovics	2014
CASR	50	2	58	59	LCGreen Plus	HR96							Identification of rare and frequent variants of the CASR gene by..	Nissen	2012
CCR5, F8-S2		2	107	140	EvaGreen	CFX96							Gaussian decompostion of high-resolution melt curve derivatives for..	Zaboikin, Freter, Srinivasakumar	2018
CDH2	7					RG							Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right..	Mayosi, Fish, Shaboodien, Mastantuono, Kraus, Wieland, Kotta, Chin, Laing, Ntusi, Chong, Horsfall, Pimstone, Gentilini, Parati, Strom, Meitinger, Pare, Schwartz, Crotti	2017
CDKL5	165	25	170	364					100	3375			Validation of high-resolution DNA melting analysis for mutation scanning..	Raymond, Diebold, Leroux, Maurey, Drouin-Garraud, Delahaye, Dulac, Metreau, Melikishvili, Toutain, Rivier, Bahi-Buisson, Bienvenu	2013
CDKL5	83	25	192	522	LCGreen Plus	LS							Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett..	Záhoráková, Langová, Brožová, Lašt?vková, Kalina, Rennerová, Martásek	2016
CDKL5, SCN2A, SETD5, ALG13, TBL1XR1, SCN1A and GRIN1	11	1											High prevalence of genetic alterations in early-onset epileptic..	Kobayashi, Tohyama, Kato, Akasaka, Magara, Kawashima, Ohashi, Shiraishi, Nakashima, Saitsu, Matsumoto	2016
CFTR	45	11	198	201	SYBR Green I	HR-1	100	45	100	45	100	45	High-resolution DNA melting analysis for simultaneous mutation scanning..	Zhou, Wang, Palais, Pryor, Wittwer	2005
CFTR	30	37	146	322	LCGreen Plus	LS	100	87			80	20	Scanning the Cystic Fibrosis Transmembrane Conductance Regulator Gene..	Montgomery, Wittwer, Palais, Zhou	2007
CFTR	52	19	101	380	LCGreen Plus	RG	100	23	96	28	100	1	Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of..	Krenkova, Norambuena, Macek	2009
CFTR	26	9	175	458	SYBR Green I	HR-1	100	20			50	2	A Comparison of High-Resolution Melting Analysis With Denaturing..	Chou, Lyon, Wittwer	2005
CFTR	133	39	162	324	LCGreen Plus	LS	100	5187					Symmetric Snapback Primers for Scanning and Genotyping of the Cystic..	Zhou, Palais, Ye, Chen, Montgomery, Wittwer	2013
CFTR	307	32	179	412	LCGreen Plus	LS	100	232					Validation of high-resolution DNA melting analysis for mutation scanning..	Audrezet	2008
CFTR	1				LCGreen Plus	HR-1							Simultaneous mutation scanning and genotyping by high-resolution DNA..	Montgomery	2007
CFTR					LCGreen Plus								Automated Microfluidic Platform for Serial Polymerase Chain Reaction and..	Cao	2015
CFTR	208	38	146	322	LCGreen Plus	LS							Single-cell high resolution melting analysis: A novel, generic,..	Destouni, Poulou, Kakourou, Vrettou, Tzetis, Traeger-Synodinos, Kitsiou-Tzeli	2016
CFTR	73	1				LC480							Genetic Background and Clinical Characters of Pediatric Chronic..	Liu, Xia, Zhang, Hu, Liao, Sun, Li	2017
CFTR	275					LS							Comprehensive genetic study of cystic fibrosis in Slovak patients in 25..	Soltysova, Tothova Tarova, Ficek, Baldovic, Polakova, Kayserova, Kadasi	2018
CFTR	60	13	135	291	SYBR Green	SLAN 96P							A simple, fast and inexpensive method for mutation scanning of CFTR gene	Figueredo Lago, Armas Cayarga, González González, Collazo Mesa	2017
CFTR, SMN1, CLTCL1, KLHL22, PI4KA	202	5	50	100	LCGreen Plus	RG							Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion..	Zhang, Wang, You, Palais, Zhou, Fu	2018
chr13 vs chr18, chr18 vs chr21, chr7 vs chr13, chr12 vs chr21, chr2 vs chrX, chr3 vs chrX, chrX vs chrY-1, chrX vs chrY-2	1550	8	39	151	ResoLight	LC480 II	100	53	100	40000			Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by..	Zhou	2014
chr7 vs chr21, chr12 vs chr21, chr9 vs chr18, chr1 vs chr18, chr7 vs chr13, chr17 vs chr13, chr3 vs chrX, chr16 vs chrX, chrX vs chrY-1, chrX vs chrY-2	131	10	39	115	ResoLight	LC480 II	100	210	99.6	480			Rapid Diagnosis of Aneuploidy by High-Resolution Melting Analysis of..	Guo	2012
ChREBP	18	3	71	1034	Resolight	LC 96							Development of an effective and rapid qPCR for identifying human ChREBP..	Ramirez-Meza, Maldonado-Gonzalez, Hernandez-Nazara, Martinez-Lopez, Ocampo-Gonzalez, Bobadilla-Morales, Torres-Baranda, Ruiz-Madrigal	2019
CLEC4E	416	2	105	123	LCGreen Plus	LC480							Association between CLEC4E gene polymorphism of mincle and pulmonary..	Kabuye, Chu, Lao, Jin, Kang	2019
cMLCK	149	8	301	480		LS	100						Impact of cardiac myosin light chain kinase gene mutation on development..	Hodatsu, Fujino, Uyama, Tsukamoto, Imai-Okazaki, Yamazaki, Seguchi, Konno, Hayashi, Kawashiri, Asano, Kitakaze, Takashima, Yamagishi	2019
COL1A1 and COL1A2	150	122	80	260	EvaGreen	RG	100	9760	100	9760			Validation of a Quantitative PCR–High-Resolution Melting Protocol for..	Gentile, Zuntini, Parra, Battistelli, Pandolfi, Pals, Sangiorgi	2012
COL1A1 and COL1A2	54	121	80	260	EvaGreen	Eco							Identification of gene mutation in patients with osteogenesis imperfect..	Wang, Ren, Bai, Zhang, Wang, Li, Li	2015
COL3A1	1												Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the..	Masuno, Watanabe, Naing, Shimada, Fujimoto, Ninomiya, Ueda, Kadota, Kotaka, Kondo, Yamanouchi, Inoue, Ouchi, Kuroki	2012
COL3A1	15	52	124	330	LCGreen Plus	LS							A novel mutation screening system for Ehlers-Danlos Syndrome, vascular..	Naing	2011
Col4A5	90	56	198	300	ResoLight	LC480							Collagen type IV nephropathy: Genetic heterogeneity examinations in..	Endreffy	2011
COL4A5	41					RG							Alport Retinopathy Results from “Severe” COL4A5 Mutations and Predicts..	Tan	2010
COX4I1 , COX4I2 , COX5A , COX5B , COX6A1 , COX6A2 , COX6B1 , COX6C , COX7A1 , COX7A2 , COX7B , COX7C , COX8A , COX10 , and COX15		70	191	486	LCGreen Plus	LS							High-Resolution Melting Analysis for Identifying Sequence Variations in..	Vondrá?ková, Veselá, Zeman, Tesa?ová	2015
COX6A1, COX6A2, COX7A1, COX7A2, (SURF1, SCO1, SCO2, COX10, COX15, TACO1, LRPPRC, C2orf64, C20orf7, COX4I2 and COX6B1	260	71	191	724	LCGreen Plus	LS							High-resolution melting analysis of 15 genes in 60 patients with..	Vondrackova, Vesela, Hansikova, Docekalova, Rozsypalova, Zeman, Tesarova	2012
CpSRP54		1	84	84	ResoLight	LC 96							A CRISPR/Cas9 system adapted for gene editing in marine algae	Nymark, Sharma, Sparstad, Bones, Winge	2016
CR1	187	1			EvaGreen	LC480							Inherited and Acquired Decrease in Complement Receptor 1 (CR1) Density on..	Mahmoudi, Feldman, Kisserli, Duret, Tabary, Bertholon, Badr, Nonnonhou, Cesar, Neuraz, Novella, Cohen	2018
CRB1	569	25	140	430		LC480	73	7373	100	10100			High frequency of CRB1 mutations as cause of Early-Onset Retinal..	Corton, Tatu, Avila-Fernandez, Vallespín, Tapias, Cantalapiedra, Blanco-Kelly, Riveiro-Alvarez, Bernal, García-Sandoval, Baiget, Ayuso	2013
CRISPR-Cas9	1	2	80	95	LCGreen Plus	LS							Gateway-Compatible CRISPR-Cas9 Vectors and a Rapid Detection by..	Denbow, Lapins, Dietz, Scherer, Nimchuk, Okumoto	2017
CTXN3 and SLC12A2	288	28			LCGreen Plus	LS							Association of CTXN3-SLC12A2 polymorphisms and schizophrenia in a Thai..	Panichareon, Nakayama, Iwamoto, Thurakitwannakarn, Sukhumsirichart	2012
CYBB	78	13	180	401	LCGreen Plus	LS	100	6	100	6	0		High resolution melting analysis for gene scanning	Erali, Wittwer	2010
CYBB	133	39	162	324	LCGreen Plus	LS	100	1092					Symmetric Snapback Primers for Scanning and Genotyping of the Cystic..	Zhou, Palais, Ye, Chen, Montgomery, Wittwer	2013
CYBB	96	13	179	401	LCGreen Plus	LS							Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by..	Hill	2010
CYP17 and CYP19A	312	2	160	168		LC480							Polymorphic variants of CYP17 and CYP19A and risk of infertility in..	SZCZEPANSKA, WIRSTLEIN, SKRZYPCZAK, JAGODZINSKI	2013
CYP21A2	200	6	118	283	ResoLight	LC480							High-resolution melting curve (HRM) analysis to establish CYP21A2..	Lin	2011
CYP2C8	96	15			ResoLight	LC480							Rapid identification of CYP2C8 polymorphisms by high resolution melting..	Chang, Lin, Lin, Yeh, Hung, Chang	2012
CYP2D6	97	7	55	148	LCGreen Plus	LC480	96.7	616	100	637	100	637	Alternative Reliable Method for Cytochrome P450 2D6 Poor Metabolizers..	Pindurova, Zourkova, Zrustova, Jurica, Pavelka	2013
CYP4A11	328	1			ResoLight	LC480							Association between the CYP4A11 T8590C Variant and Essential Hypertension:..	Yan, Liu, Li, He, Yang, Qiu, Li, Ding, Shi, Zhao	2013
CYP7B1	103	9	250	385	EvaGreen	RG					0		White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.	Biancheri, Ciccolella, Rossi, Tessa, Cassandrini, Minetti, Santorelli	2009
DCTN1-6, ACTR1A, ACTR1B	106	72	90	318		LS							Mutation analysis of genes within the dynactin complex in a cohort of..	Tey, Ahmad-Annuar, Drew, Shahrizaila, Nicholson, Kennerson	2016
DKC1, TERT, TERC, NHP2, NOP10 and TINF2	14	34			LCGreen Plus	LS							High resolution melting analysis for the identification of novel mutations..	Carrillo, Martínez, Solera, Moratilla, González, Manguán-García, Aymerich, Canal, Del Campo, Dapena, Escoda, García-Sagredo, Martín-Sala, Rives, Sevilla, Sastre, Perona	2012
DMD	33	96	126	548	LCGreen Plus	LS	100	40			70.6	34	Rapid and cost effective detection of small mutations in the DMD gene by..	Almomani, van der Stoep, Bakker, Dunnen, Breuning, Ginjaar	2009
DMD		2	141	249	EvaGreen	CFX96	100	282					Detection of hemi/homozygotes through heteroduplex formation in..	Cheng	2011
DMD	24	96			EvaGreen	RG							Duchenne muscular dystrophy: High-resolution melting curve analysis as an..	Esterhuizen	2014
DMD, APC	50	6	180	252									Comparative-high resolution melting: a novel method of simultaneous..	Borun	2014
DNAH5, DNAI1, RSPH4A, RSPH9, SPAG1, LRRC6, DNAI2, CCDC39, CCDC40	172	7	97	133	EvaGreen	7900HT Fast							ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary..	Kurkowiak, Zi?tkiewicz, Greber, Voelkel, Wojda, Pogorzelski, Witt	2016
Dnajc17	89	13	106	339	Syto 9	StepOnePlus							High?resolution melting analysis (HRM) for mutational screening..	Nettore, Desiderio, De Nisco, Cacace, Albano, Improda, Ungaro, Salerno, Colao, Macchia	2018
DNMT3A and IDH1/2	67	4	73	148	ResoLight	LC480	100	268					Comparison of high-resolution melting analysis with direct sequencing for..	Gorniak	2015
DTNBP1	669				LCGreen Plus	LS							Mutation Screening of the DTNBP1 Exonic Sequence in 669 Schizophrenics and..	Dwyer	2010
DYS14, HBB	119	4	318	425	ResoLight	LC480							Noninvasive prenatal diagnosis experience in the Çukurova Region of..	Yenilmez, Tuli, Evruke	2013
EGFR	239				EvaGreen	RG							Targeted methods for molecular characterization of EGFR mutational profile..	Kaanane, El Attar, Louahabi, IGOT CASA, Berradi, Idrissi, Khyatti, Nadifi	2019
EGFR, K-RAS	143	4			Syto 9	RG							Impact of smoking on frequency and spectrum of K-RAS and EGFR mutations in..	Masykura, Zaini, Syahruddin, Andarini, Hudoyo, Yasril, Ridwanuloh, Hidajat, Nurwidya, Utomo	2019
EGFR, KRAS, BRAF, HER2	7	10	144	232	Resolight	LC480							Detection of EGFR, KRAS and BRAF mutations in metastatic cells from..	Frankel, Nanni-Metellus, Robaglia-Schlupp, Tomasini, Guinde, Barlesi, Astoul, Ouafik, Amatore, Secq, Kaspi, Roll	2018
EGLN1	347					LS 32							Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination..	Tashi, Scott Reading, Wuren, Zhang, Moore, Hu, Tang, Shestakova, Lorenzo, Burjanivova, Koul, Guchhait, Wittwer, Julian, Shah, Huff, Gordeuk, Prchal, Ge	2017
EIF4G1	1989												Variants in eukaryotic translation initiation factor 4G1 in sporadic..	Schulte, Damin, Pietra, Galbiati, Boggi, Casetti, Rumi, Chiari, Cazzola, Ferrari, Cremones	2012
EMILIN1	467				LCGreen Plus	LS							Association of intronic single-nucleotide polymorphisms in the EMILIN1..	Oh	2012
EMX1, IL2RG, Gtl2	2	3	200	200		LC480 II							Research of methods to detect genomic mutations induced by CRISPR/Cas..	Wang, Mei, Liu, Qiao, Ruan, Huang, Cao	2015
ETFDH	1				ResoLight	LC480							Computational analysis of a novel mutation in ETFDH gene highlights its..	Er	2011
ETFDH	4	15	152	289	ResoLight	LC480							High resolution melting analysis facilitates mutation screening of ETFDH..	Er	2010
ETS-1	549					LC480							Genetic association of E26 transformation specific sequence 1..	Xu, Niu, Su, Wang, Zhang, Yang, and Huang	2019
EXTL1−3, SDC2, SDC3, and PTHR1	27				LCGreen Plus	LS							Determination of the Mutation Spectrum of the EXT1/EXT2 Genes in British..	Lonie	2006
F8	43	33	168	481	ResoLight	LC480							Mutation spectrum of 122 hemophilia A families from Taiwanese population..	Lin	2008
F8	20	20	168	436	LCGreen Plus	LC480, LS							Detection of Factor VIII Gene Mutations by High- Resolution Melting..	Laurie	2007
F8	20	20	168	436	LCGreen Plus	LC480, LS							Detection of Factor VIII Gene Mutations by High- Resolution Melting..	Laurie	2007
F8	39				EvaGreen	CFX96							Systematic molecular analysis of hemophilia A patients from Colombia	Yunis, Linares, Cabrera, Yunis	2018
F9	107	7	151	298	RG	EG							Spectrum of F9 mutations in Chinese haemophilia B patients: identification..	Yu	2012
F9	61	14	100	250	Resolight	LC480							High resolution melting for F9 gene mutation anlaysis in patients with..	salviato, Belcini, Radossi, Tagariello	2019
F9	62	14	100	250	Resolight	LC480							High resolution melting for F9 gene mutation analysis in patients with..	Salviato, Belvini, Radossi, Tagariello	2019
FADS	1015	5	50	62	LCGreen Plus	LS							FADS Gene Polymorphisms Confer the Risk of Coronary Artery Disease in a..	Li, Lin, Ma, Zhang, Zhou, Lu, Zhou, Liu	2013
FANCA	27	21	175	260	EvaGreen	RG							Investigation of FANCA gene in Fanconi anaemia patients in Iran	Moghadam, Mahjoubi, Reisi, Vosough	2016
FBN1	82	75	179	301	ResoLight	LC480							Identification of fibrillin-1 gene mutations in Marfan syndrome by..	Hung	2009
FGF8	360				ResoLight	LC480							A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and..	Arauz	2010
FGFR3	2	1			LCGreen Plus	LS							Rapid Detection of Common Mutations of the FGFR3 Gene Causing..	Yang	2012
FGFR3	12	1	123	123	LCGreen Plus	HR-1							Rapid Detection of G1138A and G1138C Mutations of the FGFR3 Gene in..	He	2012
FGFR3	123	4			Syto 9	7500 Fast							Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity..	Gomes, Kanazawa, Riba, Pereira, Zuma, Rabelo, Sanseverino, Horovitz, Llerena Jr., Cavalcanti, Gonzalez	2018
FGFR3, G380R	151	2			Resolight	LC480							Optimal non-invasive diagnosis of fetal achondroplasiacombining..	Vivanti, Costa, Rosefort, Kleinfinger, Lohmann, Cordier, Benachi	2019
FLT 3, NPM1, MLL-PTD	99	3			S82	LC480							High-resolution melting curve analysis, a rapid and affordable method for..	Liu	2014
FMR1	508			400	LCGreen Plus	LS-96							Point mutation frequency in the FMR1 gene as revealed by fragile X..	Handt	2014
FTL	18	1	149	149		RG							High resolution melting for the identification of mutations in the iron..	Castiglioni	2010
FUT2	294	2			ResoLight	LC480							Genetic variation of FUT2 in a Vietnamese population: identification of..	Soejima	2012
FY	596		152	160		7500 Fast							Duffy blood group system–the frequency of Duffy antigen polymorphisms..	Lukasik, Nowak, Czerwinski, Wasniowska	2019
G3460A, G11778A, and T14484C		4	120	221	SYBR Green I	7500 Fast							A real-time ARMS PCR/high-resolution melt curve assay for the detection of..	Ryan, Ryan, O'Dwyer, Neylan	2016
G6PD	260	12	64	137	LCGI	RC					0		Rapid and Reliable Detection of Glucose-6-phosphate dehydrogenase	Yan	2007
G6PD	1450	12	64	137	LCGreen Plus	LC480							Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by..	Pan, Lin, Yang, Wu, Zhan, Zhao, Wen, Liu, Yang, Cai	2013
G6PD	260	12	64	137									Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD)..	Yan	2010
G6PD	2500	12	64	137	LCGreen Plus	LC480							Incidence and molecular characterization of Glucose-6-Phosphate..	Yang	2014
G6PD	174	14				CFX96							STARD-rapid screening for the 6 most common gene mutations in the Chinese..	Fan, Weng, Huang, Pan, Long, Fan, Tang, Fang, Long, Hu, Huang, Sun	2018
G6PD	63		62	226	EvaGreen	CFX96							High resolution melting curve analysis enables rapid and reliable..	Islam, Sarker, Talukder, Bhuyan, Rahat, Islam, Mahmud, Hossain, Muraduzzaman, Rahman, Qadri, Shahidullah, Mannan, Tahura, Hussain, Saha, Akhter, Nahar, Begum, Shirin, Akhterussaman, Qadri, Qadri, Mannoor	2018
GAA	252	25	169	377	Resolight	LC480	100						Development of a feasible assay for the detection of GAA mutations in..	Er, Chen, Chien, Liang, Kan, Jong	2013
GALT	3				EvaGreen	CFX96							A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian..	De Lucca, Barba, Casique	2017
GIGYF2	389					LS							No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in..	Li	2010
GJA3	113	1	296	296	EvaGreen	RG							Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a..	Zhang, Wang, Wang, Dong, Li	2012
GJB1	32	4	185	458	LCGreen Plus	LS	100	18	100	18	100	18	Mutation scanning the GJB1 gene with high-resolution melting analysis:..	Kennerson, Warburton, Nelis, Brewer, Polly, De Jonghe, Timmerman, Nicholson	2007
GJB1	11		107	350									X-linked distal hereditary motor neuropathy maps to the DSMAX locus on..	Kennerson	2009
GJB2 and PRPH2	4												Combination of retinitis pigmentosa and hearing loss caused by a novel..	Fakin, Zupan, Glavac, Hawlina	2012
GJB2, SLC26A4, 12S rRNA	101	5	67	75	LCGreen Plus	LS 32	95	480					A sensitive and convenient method for clinical detection of non-syndromic..	Yuan, Xia, Huang, Hu, Liao, Dai, Liu	2017
GLA	9					LC480							Novel ?-galactosidase A mutation in patients with severe cardiac..	Duro, Musumeci, Colomba, Zizzo, Albeggiani, Mastromarino, Volpe, Autore	2014
GLA	6	7				LC480							Identification of a novel mutation in the alpha-galactosidase A gene in..	Colomba, Nucera, Zizzo, Albeggiani, Francofonte, Iemolo, Tuttolomondo, Pinto, Duro	2012
GLA	740	7	285	443	ResoLight	LC480							Genetic screening of Fabry patients with EcoTILLING and HRM technology	Bono	2011
GLA, G6PC	16	4	251	300	SYTO 9	ABI 7500							Rapid Molecular Diagnosis of Genetic Diseases by High Resolution Melting..	Ezgu, Divanoglu, Polat, Bahceci, Hasanoglu, Desnick	2013
GLO1 and HAGH	143	143			EvaGreen	ABI 7500							Weak association of glyoxalase 1 (GLO1) variants with autism spectrum..	Kovac	2014
GNAS	131	1	96	96	ResoLight	LC480							Diagnostic value of investigating GNAS mutations in fibro-osseous lesions:..	Tabareau-Delalande, Collin, Gomez-Brouchet, Decouvelaere, Bouvier, Larousserie, Marie, Delfour, Aubert, Rosset, de Muret, Pagès, de Pinieux	2013
gpsA, Hypothetical protein, cadF	27	4	182	774	Syto 9	RG							Evaluation of Two Multiplex PCR–High-Resolution Melt Curve Analysis..	Banowary, Dang, Sarker, Connolly, Chenu, Groves, Raidal, Ghorashi	2018
GRIA2, GRIA4	568	7	120	150	SYTO 9	RG							Genetic Analysis of GRIA2 and GRIA4 Genes in Migraine	Gasparini, Sutherland, Haupt, Griffiths	2013
GRM3	2251	10			Various	LC480							Genetic Association, Mutation Screening, and Functional Analysis of a..	Kandaswamy, McQuillin, Sharp, Fiorentino, Anjorin, Blizard, Curtis, Gurling	2013
GRN	591												Progranulin genetic screening in frontotemporal lobar degeneration..	Bagnoli, Piaceri, Tedde, Piacentini, Nannucci, Bracco, Sorbi, Nacmias	2012
GSTP1	897	2	209	224	LCGreen Plus	LS	98.2	274	98.6	289	50.8	61	High-resolution melting curve analysis of genomic and whole-genome..	Cho, Ciulla, Klanderman, Raby, Silverman	2008
GYP.Mur and GYPB	379				LCGreen Plus	LS-96							A direct blood polymerase chain reaction approach for the determination of..	Hsu, Lin, Chang, Chan, Chao, Lee, Lin	2013
GYP9	3104	1	270	273	EvaGreen	RG							Genotyping analysis of MNS blood group GP(B-A-B) hybrid glycophorins in..	Wei, Lopez, Zhang, Wen, Wang, Fu, Hyland, Flower, Luo, Ji	2018
gyrA, gyrB	84	2	107	144	EvaGreen	RG							Three-reaction high-resolution melting assay for rapid differentiation of..	Landolt, Stephan, Stevens, Scherrer	2019
Hb CS	71	2	180	180	SYTO 9	RG							Rapid identification of heterozygous and homozygous hemoglobin constant..	Pornprasert, Panyasai, Waneesorn, Kongthai, Singboottra	2012
HBA1	35				SYBR Green I	Rotor-Gene 6000							Analysis of Deletional Hb H Diseases in Samples with Hb A2-Hb H and Hb..	Khongthai, Ruengdit, Panyasai, Pornprasert	2019
HBA1 and HBA2	80	4	201	212	LCGreen Plus	LS	100						Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2..	Petropoulou, Poula, Traeger-Synodinos, Vrettou, Kanavakis, Christopoulos, Ioannou	2015
HBA2	62	4	170	797	SYBR Green ER	LC480					0		Development of a high-resolution melting method for the detection of..	Shih, Er, Chang, Chang, Liu, Chang	2010
HBB	22	2	144	247	ResoLight	LC480	100	40	100	40	100	40	Rapid and inexpensive detection of common HBB gene mutations in Tunisian..	Ouragini, Haddad, Darragi, Abbes	2013
HBB	43	4	124	224	SYBR Green I	RG							Detection of ?-thalassemia-1 Southeast Asian and Thai Type Deletions and..	Pornprasert	2011
HBB	71	4	105	163	LCGreen Plus	HR-1							Rapid Identification of Common b-Thalassemia Mutations in the Chinese..	He	2010
HBB	11	1			SYTO 9, SYBR Green I	RG							SYTO9 and SYBR GREEN1 with a high-resolution melting analysis for prenatal..	Pornprasert	2010
HBB	72	9	154	404	ResoLight	LC480							Rapid identification of HBB gene mutations by high-resolution melting..	Shih	2009
HBB	4	4			LCGreen Plus, SYBR Green I	ABI7300, RG, RealPlex4S, LS, LC480, Stratagene Mx3005p							Expanded Instrument Comparison of Amplicon DNA Melting Analysis for..	Herrmann	2007
HBB		1	110	110	LCGreen Plus	ABI 7000, 7900HT, iCycler, SmartCycler, RG, HR-1, LS, LC 1.2, and LC 2.0							Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping:..	Herrmann	2006
HBB	60	4	124	201	EvaGreen	Eco							High resolution melting analytical platform for rapid prenatal and..	Prajantasen	2015
HBB	23	2	115	117	LCGreen Plus	LS							A Novel Targeted Approach for Noninvasive Detection of Paternally..	van den Oever, van Minderhout, Harteveld, den Hollander, Bakker, van der Stoep, Boon	2015
HBB	40	3	120	184	EvaGreen	RG	100	120	100	120			Assessment of high resolution melt analysis feasibility for evaluation of..	Ramezanzadeh, Salehi, Salehi	2016
HBB	198	10	83	378	ResoLight	LC480							Development of a High-Resolution Melting Approach for Scanning Beta Globin..	Chassanidis, Boutou, Voskaridou, Balassopoulou	2016
HBB	8578					LC480							Epidemiology of Hemoglobinopathies in the Huzhou Region, Zhejiang..	Ding, Shen, Zhang, He	2016
HBB	410	13	82	192	ResoLight	RG	100	5330	98	5223			Rapid detection of pathological mutations and deletions of the haemoglobin..	Turner, Sasse, Varadi	2016
HBB	126	6	127	224	Syto 82	CFX96							High-resolution melting analysis for prenatal diagnosis of..	Charoenkwan, Sirichotiyakul, Phusua, Suanta, Fanhchaksai, Sae-Tung, Sanguansermsri	2017
HBB	157	2			EvaGreen	CFX96							High resolution melting curve analysis targeting the HBB gene mutational..	Islam, Sarkar, Sultana, Begum, Bhuyan, Talukder, Muraduzzaman, Alauddin, Islam, Biswas, Biswas, Qadri, Shirin, Banu, Sadya, Hussain, Sarwardi, Khan, Mannan, Shekhar, Chowdhury, Sajib, Akhteruzzaman, Qadri, Qadri, Mannoor	2018
HBB	1115	7	117	183	Syto 9	CFX96							The shortcut strategy for beta thalassemia prevention	Suwannakhon, Pongsawatkul, Seeratanachot, Mahingsa, Pingyod, Bumrungpakdee, Sanguansermsri	2018
HBB and SLC25A38	5	7			LCGreen Plus	LS-96							Complex preimplantation genetic diagnosis for beta-thalassaemia,..	Kakourou, Vrettou, Kattamis, Destouni, Poulou, Moutafi, Kokkali, Pantos, Davies, Kitsiou-Tzeli, Kanavakis, Traeger-Synodinos	2016
HC or LC, rMAb2	1000	2	200	350	ResoLight	LC480	95						A sensitive mutation screening method supporting cell line development for..	Valisheva, Harris, Zhu-Shimoni	2016
HFE	90				EvaGreen	RG	100		100		100		High resolution melting analysis to genotype the most common variants in..	Marotta	2011
HFE, HJV, HAMP, TFR2, SLC40A1		1											Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis	Santos	2012
HIF-1?	958	2				LS96							Hypoxia-inducible factor-1? polymorphisms link to coronary artery..	Liu, Liang, Zou, Ni, Li, Chen	2013
HMBS	97	13	219	634	LCGreen Plus	LS							Detection of DNA variations in the polymorphic hydroxymethylbilane..	Ulbrichova-Douderova	2009
hMTH1, hOGG1	2394	2	139	221	LCGreen Plus	PTC-200							Combined analysis of polymorphism variants in hMTH1, hOGG1 and MUTYH genes..	Cao, Zhou, Zhu, Guo, Cai, He, Xie, Li, Zhu, Wang	2013
HPRT, HBEGF	1540	2	157	157	EvaGreen	ViiA 7							A CRISPR/Cas9-Based Screening for Non-Homologous End Joining Inhibitors..	Du, Shang, Chen, Zhang, Yin, Xie, Zhang, Yu, Liu	2017
HTN3, IL19, MMP10, TGM4, CCL27, ALAS2	184	6	92	227	EvaGreen	RG							Rapid and inexpensive body fluid identification by RNA profiling-based..	Hanson, Ballantyne	2013
IDH1 and IDH2	184	3			ResoLight	LC480							The Clinical Significance of IDH Mutations in Essential Thrombocythemia..	Yonal-Hindilerden, Daglar-Aday, Hindilerden, Akadam-Teker, Yilmaz, Nalcaci, Yavuz, Sargin	2016
IFNG	4346	4	171	278	EvaGreen	LC480							Rare human IFNG variants	Thye	2010
IGF1	95	24	206	483	LCGreen Plus	LS					0		Identification of genetic variants that influence circulating IGF1 levels:..	, Johnson, Coupland, Taylor, Carvajal, Holly, Fentiman, dos Santos Silva, Ashworth, Peto, Fletcher	2008
IL-18	220												Interleukin 18 Polymorphisms and its serum level in Patients with Multiple..	Jahanbani-Ardakani, Alsahebfosoul, Etemadifar, Abtahi	2019
IL2RA	857	1	101	101	SYTO 9	RG							Association Analysis of the IL2RA Gene with Alopecia Areata in a Chinese..	Miao, Kang, Xu, Qi, Sheng, Han, Hu, Guo, Yang	2013
INF2	115	1			Resolight	LC480							Mutational screening of inverted formin 2 in adult-onset focal segmental..	Safarikova, Stekrova, Honsova, Horinova, Tesar, Reiterova	2018
INF2	115				Resolight	LC480							Mutational screening of inverted formin 2 in adult-onset focal segmental..	Safarikova, Stekrova, Honsova, Horinova, Tesar, Reiterova	2018
ITGB3	142	1	152	152		LC480							Noninvasive prenatal diagnosis by cell-free DNA screening for fetomaternal..	Ferro, Macher, Fornes, Martin-Sanchez, Jimenez-Arriscado, Molinero, Perez-Simon, Guerrero, Rubio	2018
JAK2	89	1	184	184	Resolight, Syto 9	ABI7900, ABI7500, LC480	100	89			0		Interlabatory Development and validation of a HRM method applied to the..	Ugo, Tondeur, Menot, Bonnin, Le Gac, Tonetti, Mansat-De Mas, Lecucq, Kiladjian, Chomienne, Dosquet, Parquet, Darnige, Porneuf, Escoffre-Barbe, Giraudier, Delabesse, Cassinat	2010
JAK2	1751	1	126	126	SYTO 9	ABI 7500							A Multiplexed Fragment Analysis-Based Assay for Detection of JAK2 Exon 12..	Furtado, Weigelin, Elenitoba-Johnson, Betz	2013
JAK2	6	1	164	164	LCGreen Plus	LS							A Highly Sensitive Quantitative Real-Time PCR Assay for Determination of..	Kjær	2012
JAK2	42					RG							Development and Inter-Laboratory Validation of Unlabeled Probe Melting..	Wu, Yuan, Zhang, Liu, Xu, Zhang, Guan	2011
JAK2	59	1	118	118		LC480							Nested High-Resolution Melting Curve Analysis A Highly Sensitive,..	Carillo	2011
JAK2	140	1	127	127	SYTO 9	RG							The mutation profile of JAK2 and CALR in Chinese Han patients with..	Wu	2014
JAK2	136	1	155	155	EvaGreen	RG	96	131	100	136			Comparativestudyofdifferentmethodologiestodetectthe JAK2..	Didone, Nardinelli, Marchiani, Ruiz, de Lima Costa, Lima, Santos, Sanabani, Bendit	2016
JAK2	44	1	119	119	ResoLight	StepOnePlus	100	44	100	44			Validating the Sensitivity of High-Resolution Melting Analysis for JAK2..	Lin, Ho, Tamamyan, Yang, Peng, Chang	2016
JAK2	45	1			EvaGreen	LC 96							Development of a high resolution melting analysis assay for rapid..	Moradabadi, Farsinejad, Khansarinejad, Fatemi	2019
JAK2	23	1	86	86	EvaGreen	RG							Analysis of the reannealing- instead of melting-curve in the detection of..	Moradabadi, Fatemi, Noroozi-Aghideh	2019
JAK2, MPL	208				LCGreen Plus	LS-96							Increased frequency of co-existing JAK2 exon-12 or MPL exon-10 mutations..	Nussenzveig, Pham, Perkins, Prchal, Agarwal, Salama	2016
JAK2, MPL and CALR	78								100				Calreticulin Mutations in Bulgarian MPN Patients	Pavlov, Hadjiev, Alaikov, Spassova, Stoimenov, Naumova, Shivarov, Ivanova	2017
JAK2, MPL, and CALR	169	3			Resolight	LC480							Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F..	Usseglio, Beaufils, Calleja, Raynaud, Gabert	2017
KAL1	20				EvaGreen	RG							Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism..	Ahmadzadeh, Ghods, Mojarrad, Aboutorabi, Afkhamizadeh, Bonakdaran, Mosavi, Taghavi, Hassanzadeh Nazarabadi	2015
KALRN	512	1	142	142	EvaGreen	RG							Association between Serum Kalirin Levels and the KALRN gene rs9289231..	Shafiei, Soltanahmadi, Ziaee, Mofarrah, Zarghami	2017
KCNA5, KCNQ1, KCNH2, SCN5A, SCN1B, SCN2B, SCN3B, KCNE1, KCNE2, KCNJ5, GJA5, and NPPA	90					LS							Functional Characterization of Rare Variants Implicated in Susceptibility..	Hayashi, Konno, Tada, Tani, Liu, Fujino, Nohara, Hodatsu, Tsuda, Tanaka, Kawashiri, Ino, Makita, Yamagishi	2015
KCND3	630	10				LS							Mutations in Potassium Channel KCND3 Cause Spinocerebellar Ataxia Type 19	Duarri, Jezierska, Fokkens, Meijer, Schelhaas, den Dunnen, van Dijk, Verschuuren-Bemelmans, Hageman, van de Vlies, Küsters, van de Warrenburg, Kremer, Wijmenga, Sinke, Swertz, Kampinga, Boddeke, Verbeek	2012
KCNH2	30	69											Evaluation of a New High-Throughput Next-Generation Sequencing Method..	Millat	2014
KCNQ1, KCNH2		3	250	308	SYTO 9	RG							Development of a high resolution melting method for the detection of..	Millat	2011
KCNQ1, KCNH2, and SCN5A	8	43	100	329	ResoLight	LC480							Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT..	Chang, Yang, Lin, Lin, Chang, Chang	2015
KRAS	10	1	55	55	EvaGreen	CFX96	98.5	9					DNA melting analysis: Application of the ‘‘open tube’’ format for..	Botezatu	2011
LDLR	60	19	128	356	LCGreen Plus	LC480	96.3	54			0		Evaluation of high-resolution melting analysis for screening the LDL..	Laurie, George	2008
LDLR	127	1	291	291		RG							Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia..	Ahmed, Ajmal, Sadeque, Whittall, Rafiq, Putt, Khawaja, Imtiaz, Ahmed, Azam, Humphries, Qamar	2012
LDLR and APOB	52				LCGreen Plus	LS							Sudden Cardiac Death in Young Adults: Environmental Risk Factors and..	Larsen	2012
LDLR, APOB and PCSK9	78				Resolight	LC480							Genetic spectrum of low density lipoprotein receptor gene variations in..	ArulJothi, Suruthi Abirami, Devi	2018
LDLR, APOB or PCSK9	8					RG							Mutation Detection in Croatian Patients with Familial Hypercholesterolemia	Pecin, Whittall, Futema, Sertic, Reiner, Leigh, and Humphries	2013
LDLR, APOB, PCSK9	161	25			SYTO 9	RG							The genetic spectrum of familial hypercholesterolemia in south-eastern..	Sharifi, Walus-Miarka, Idzior-Walu?, Malecki, Sanak, Whittall, Li, Futema, Humphries	2015
LDLR, APOB, PCSK9	16	25			Syto 9	RG							Analysis of mutations causing familial hypercholesterolaemia in black..	Ibe, Whittall, Humphries, Pilcher, Raal	2017
LMNA	64	15	175	354	SYTO 9 (2.5 ÂµM)	RG	100	19			0		Validation of high-resolution DNA melting analysis for mutation scanning..	Millat, Chanavat, Julia, Crehalet, Patrice-Bouvagnet, Rousson	2009
LPL	134	7	152	283	ResoLight	LC480					0		Lipoprotein lipase mutation S447X associated with pancreatic calcification..	Chang, Chang, Su, Liang, Su, Kuo, Wei, Wong	2009
LRRK2	205				SYTO 9	RG							LRRK2 G2019S mutation: frequency and haplotype data in South African..	Bardien	2010
LTBP4	897	3	156	392	LCGreen Plus	LS	98.2	274	98.6	289	50.8	61	High-resolution melting curve analysis of genomic and whole-genome..	Cho, Ciulla, Klanderman, Raby, Silverman	2008
LTF	50	5			ResoLight	LC480							Analysis of Polymorphisms in the Lactotransferrin Gene Promoter and Dental..	Brancher, Pecharki, Doetzer, Medeiros, Cordeiro Júnior, Sotomaior, Bauer, Trevilatto	2011
MC3R	488					LC480							Prevalence of rare MC3R variants in obese cases and lean controls	Zegers, Beckers, Hendrickx, Van Camp, Van Hoorenbeeck, Desager, Massa, Van Gaal, Van Hul	2013
MDR-1		1	200	200	ResoLight	LC480							Influencing factors of dsDNA dye (high-resolution) melting curves and..	Schütz	2009
MECP2	75	11	204	522	LCGreen Plus	LS	100	60	100	64			MECP2 mutations in Czech patients with Rett syndrome and Rett-like..	Zahorakova, Lelkova, Gregor, Magner, Zeman, Martasek	2016
MEFV, F5, and F2	34	4	148	244	ResoLight	LC480							Comparison of high-resolution melting analysis to denaturing high..	Sümer	2014
mir-708	5835	3				LC480							Genetic variation in the miR- 708 gene and its binding targets in bipolar..	Fiorentino, O'Brien, Sharp, Curtis, Bass, McQuillin	2016
MLH1	76	20	195	387	ResoLight	LC480							Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new..	Rouleau	2009
MMAA	253	8	172	357	LCGreen Plus	LS-96							High resolution melting analysis of the MMAA gene in patients with cblA..	Dempsey-Nunez, Illson, Kent, Huang, Brebner, Watkins, Gilfix, Wittwer, Rosenblatt	2012
MMAB	223	9	130	215	LCGreen Plus	LS 96							High resolution melting analysis of the MMAB gene in cblB patients and in..	Illson, Dempsey-Nunez, Kent, Huang, Brebner, Raff, Watkins, Gilfix, Wittwer, Rosenblatt	2013
MMADHC, MMACHC	48				ResoLight	LC480							Genetic and cellular studies of oxidative stress in methylmalonic aciduria..	Richard	2009
MORC2	32												MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With..	Albulym, Kennerson, Harms, Drew, Siddell, Auer-Grumbach, Pestronk, Connolly, Baloh, Zuchner, Reddel, Nicholson	2016
MPL	60	1	106	106									COLD-PCR and Innovative Microarray Substrates for Detecting and Genotyping..	Brisci, Damin, Pietra, Galbiati, Boggi, Casetti, Rumi, Chiari, Cazzola, Ferrari, Cremonesi	2012
MPL	221												Deep sequencing reveals double mutations in cis of MPL exon 10 in..	Pietra	2011
MPL, SRY	892	14			SYTO 9	RG							Acquired copy-neutral loss of heterozygosity of chromosome 1p as a..	Rumi, Pietra, Guglielmelli, Bordoni, Casetti, Milanesi, Sant'Antonio, Ferretti, Pancrazzi, Rotunno, Severgnini, Pietrelli, Astori, Fugazza, Pascutto, Boveri, Passamonti, De Bellis, Vannucchi, Cazzola	2013
mt D-loop	6	3	50	243	SYTO 9	RG, QuanTyper-48					100	6	Complete discrimination of six individuals based on high-resolution..	Gidlöf	2009
mt leu tRNA	83	1	53	53		HR-1							Pyrosequencing Is an Accurate and Reliable Method for the Analysis of..	Yan	2014
MT-ND2	33				LCGreen Plus								Identifying Sequence Variants in the Human Mitochondrial Genome Using..	Dobrowolski	2009
MTHFR	663	2			LCGreen Plus	RG							Population distribution of methylenetetrahydrofolate reductase (MTHFR)..	Efrati, Elkin, Nahum	2013
MTHFR, MTR	48	3				LC Nano							Levels of Key Enzymes of Methionine-Homocysteine Metabolism in Preeclampsia	Pérez-Sepúlveda, España-Perrot, Fernández, Ahumada, Bustos, Arraztoa, Dobierzewska, Figueroa-Diesel, Rice, Illanes	2013
MUTYH	82	3	186	297	ResoLight	LC480							Simplifying the detection of MUTYH mutations by high resolution melting..	López-Villar	2010
MVK, NLRP3 and TNFRSF1A	201	20	170	477	ResoLight	LC480							Combined Mutation And Rearrangement Screening by Quantitative PCR..	Pallares-Ruiz	2010
MYBPC3	75												Evaluation of a new NGSmethod based on a customAmpliSeq library and Ion..	Millat	2014
MYBPC3, MYH7, TNNT2, and TNNI3	34	89			SYTO 9, SYBR Green I	RG, LC480							Development of a high resolution melting method for the detection of..	Millat	2010
MYD88	2	1			Resolight	LC Nano	97.5						Detection of the MYD88 mutation by the combination of the allele-specific..	Nogami, Kawaguchi-Ihara, Shiratori, Ohtaka, Itoh, Tohda	2017
MYH7	69	3	192	286		LC 2.0							Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in..	Atay	2014
MYH7, TNNT2, TNNI3 and LMNA)	105				ResoLight	LC480							Clinical and mutational spectrum in a cohort of 105 unrelated patients..	Millat	2011
MYH9	7	39	149	462	LCGreen Plus	LS							High-resolution melting analysis for detection of MYH9 mutations	Provaznikova	2008
ND1	1	1			ResoLight	LC480							A new mutation in MT-ND1 m.3928GNC p.V208L causes Leigh disease with..	Wray, Friederich, du Sart, Pantaleo, Smet, Kucera, Fenton, Scharer, Van Coster, Van Hove	2013
ND4, ND1 and ND6	113	3	108	153	EvaGreen	RG							Applications of the method of high resolution melting analysis for..	Cui, Ding, Xu, Li, Wen Wang	2013
ND5	4					LS96							Mitochondrial respiratory chain disorders in the Old Order Amish population	Ghaloul-Gonzalez, Goldstein, Walsh Vockley, Dobrowolski, Biery, Irani, Ibarra, Morton, Mohsen, Vockley	2016
NF2	92	15	177	284	SYTO 9	RG							NF2 Mutation Screening by Denaturing High-Performance Liquid..	Sestini	2008
NFIX	48				SYTO 9	RG							Missense mutations in the DNA-binding/dimerization domain of NFIX cause..	Yoneda	2012
NFKB1	493	1			SYTO 9	RG							RNesueacrclhe araticrle Factor (NF) κB polymorphism is associated..	Santos	2010
NKX2.5, GATA4, GATA6, MYH6, TBX5, TBX20, NOTCH1, LPP	290				LCGreen Plus	LS							Exome Analysis of a Family with Pleiotropic Congenital Heart Disease	Arrington, Bleyl, Matsunami, Bonnell, Otterud, Nielsen, Stevens, Levy, Leppert, Bowles	2012
NLGN3, NLGN4X	340	19			SYTO 9	LC480							Identification of Four Novel Synonymous Substitutions in the X-Linked..	Yanagi, Kaname, Wakui, Hashimoto, Fukushima, Naritomi	2012
NLRP7	208					LC480							NLRP7 Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients	Landolsi, Rittore, Philibert, Hmissa, Gribaa, Touitou, Yacoubi	2012
NR5A1/SF-1	1					LC480							Predominant Sertoli cell deficiency in a 46,XY disorders of sex..	Philibert	2011
OTC	23					LS							Streamlined assessment of gene variants by high resolution melt profiling..	Dobrowolski	2007
OXPHOS	16	4			SYBR Green		80						Phenotypic spectrum of eleven patients and five novel MTFMTmutations..	Haack, Gorza, Danhauser, Mayr, Haberberger, Wieland, Kremer, Strecker, Graf, Memari, Ahting, Kopajtich, Wortmann, Rodenburg, Kotzaeridou, Hoffmann, Sperl, Wittig, Wilichowski, Schottmann, Schuelke, Plecko, Stephani, Strom, Meitinger, Prokisch, Freisinger	2013
p53		1			LCGreen Plus	RG							Combination of a modified block PCR and endonuclease IV-based signal..	Xiao, Xu, Zhai, Zhao	2013
PAH	95	13	154	283	LCGreen Plus	LS							Mutations in the phenylalanine hydroxylase gene identified in 95 patients..	Dobrowolski	2007
PARK2	91				SYTO 9 (1 ÂµM)	RG					0		Molecular analysis of the parkin gene in South African patients diagnosed..	Bardien, Keyser, Yako, Lombard, Carr	2009
PARK2	229												Mutations in the parkin gene are a minor cause of Parkinson’s disease in..	Haylett, Keyser, du Plessis, van der Merwe, Blackenberg, Lombard, Carr, Bardien	2012
PARK2, PINK1, DJ-1, SNCA, LRRK2 and ATP13A2	202				SYTO 9	RG							Identification of Parkinson's disease candidate genes using CAESAR and..	Keyser	2011
PAX9, EDA	204	2	166	321		CFX96							Novel PAX9 mutation associated with syndromic tooth agenesis	Mostowska, Zadurska, Rakowska, Lianeri, Jagodzinski	2013
PCSK9, APOB	11	36			SYTO 9	RG							The genetic spectrum of familial hypercholesterolemia in Pakistan	Ahmed, Whittall, Riaz, Ajmal, Sadeque, Ayub, Qamar, and Humphries	2013
PCSK9, APOB, LDLR	300				SYTO 9	RG							Molecular analysis of the LDLR gene in coronary artery disease patients..	ArulJothi, Whitthall, Futema, Humphries, George, Elangovan, Nair, Devi	2016
PEX6	75	16			LCGreen Plus	LS							Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients	Ebberink, Koster, Wanders, Waterham	2010
PhaHV-1, PhaHV-2	810	1	220	230	Syto 9	RG							Detection and Differentiation of Two Koala Gammaherpesviruses by Use of..	Vaz, Legione, Hartley, Devlin	2019
PHEX	209	22			ResoLight	LC480							PHEX analysis in 118 pedigrees reveals new genetic clues in..	Gaucher	2009
PINK1	154				SYTO 9	RG							Assessing the prevalence of PINK1 genetic variants in South African..	Keyser	2010
PKD1 and PKD2	87	70	154	581	ResoLight	LC480							High Resolution Melt analysis for mutation screening in PKD1 and PKD2	Bataille, Berland, Fontes, Burtey	2011
PKD1 and PKD2	56				ResoLight	LC480							Novel mutations of PKD genes in the Czech population with autosomal..	Obeidova	2014
PKD2	16	17			EvaGreen	RG							High-Resolution Melt as a Screening Method in Autosomal Dominant..	Virzı	2014
PLN	315	1			EvaGreen	RG							Mutation analysis of the phospholamban gene in 315 South Africans with..	Fish, Shaboodien, Kraus, Sliwa, Seidman, Burke, Crotti, Schwartz, Mayosi	2016
PNPLA3	393				ResoLight	LC480							Screening for rare variants in the PNPLA3 gene in obese liver biopsy..	Zegers, Verrijken, Francque, de Freitas, Beckers, Aerts, Ruppert, Hubens, Michielsen, Van Hul, Van Gaal	2016
POR	322	13	347	605	LCGreen Plus	LS							Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort	Tomková	2015
PRKRA	339					LS							DYT16 Revisited: Exome Sequencing Identifies PRKRA Mutations in a European..	Zech	2014
PRRT2	221	4	50	50		LS							Mutations in PRRT2 are not a common cause of infantile epileptic..	Heron, Ong, Yendle, McMahon, Berkovic, Scheffer, Dibbens	2013
PSMC1	599				ResoLight	LC480							PSMC1 Gene in Parkinson’s Disease	Gómez-Garre, Jesús, Carrillo, Cáceres-Redondo, Bernal-Bernal, Carballo, Gao, Mir	2012
PTPN11	60	7	151	241	ResoLight	LC480							High resolution melting analysis for mutation detection for PTPN11 gene:..	Lo	2009
PTPN11	18				LCGreen Plus	HR-96							Molecular characterization of Chilean patients with a clinical diagnosis..	Rodríguez	2014
PTPN11, SOS1, RAF1, KRAS, BRAF, HRAS, NRAS, MAP2K1, MAP2K2	273	40	250	397	EvaGreen	Eco							Study of Ras/MAPK pathway gene variants in Chilean patients with..	Rodriguez, Vallejos, Ponce, Unanue, Hernández, Célis, Arcos, Belmar, López, Cassorla	2018
PYGM	12	18	279	606	LCGreen Plus	LS							High-resolution melting facilitates mutation screening of PYGM in patients..	Duno	2009
qnr	118				ResoLight	LC480							Rapid detection of qnr and qepA plasmid-mediated quinolone resistance..	Guillard	2011
RAF1, PTPN11, SOS1, KRAS, RAF1	1				EvaGreen	Eco							RAF1 variant in a patient with Noonan syndrome with multiple lentigines..	Rodriguez, Ponce, Berward, Lopetegui, Cassorla, Aracena	2019
RB1	30				ResoLight	LC480							Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene	Hung	2011
rbcL, matK, psbA-trnH, ITS, ITS2	21	5	78	112	EvaGreen	StepOnePlus							Candidate DNA Barcode Tags Combined With High Resolution Melting (Bar-HRM)..	Mishra, Shukla and Sundaresan	2018
RET	31	1	106	106	ResoLight	LC480							Non-Invasive Prenatal Diagnosis of Multiple Endocrine Neoplasia Type 2A..	Macher, Martinez-Broca, Rubio-Calvo, Leon-Garcia, Conde-Sanchez, Costa, Navarro, Guerrero	2012
RET	16	4	109	274	LCGreen Plus	HR-1							Masking selected sequence variation by incorporating mismatches into..	Margraf	2006
RET	69	6			EvaGreen	RG			98.6	408			The development of rapid and accurate screening test for RET hotspot..	Zupan, Glavač	2015
RET, PAX2 and ALDH1A2	75	3	95	124	ResoLight	LC480							Evaluation of High Resolution Melting analysis as an alternate tool to..	Raghavendra	2011
RHO, PDE6A, PRPF31, PRPF3, CLRN1, LRAT, CRB1, PRPH2, ROM1, BBS1, BBS10, BBS2, BBS9, MKKS, BBS12, BBS4	108	159 exons	250	330	SYTO 9	7900HT	100	1	100	49			Genetic high throughput screening in Retinitis Pigmentosa based on high..	Anasagasti	2013
rpoB	230	3				LC480							rpoB gene high-resolution melt curve analysis: a rapid approach for..	Sharma, Modi, Kaur, Sharma, Ray, Varma	2015
rpoB and katG	300	3				LC480	86.5	779	100	900			Real-time PCR followed by high-resolution melting curve analysis: A rapid..	Sharma, Sharma, Singh, Modi, Sharma, Ray, Varma	2017
RUNX2	3	2			LCGreen Plus	LS							The presence of germ line mosaicism in cleidocranial dysplasia	Pal	2007
RYR1	16	2520			EvaGreen	RG							Screening of the Ryanodine 1 Gene for Malignant Hyperthermia Causative..	Broman	2011
S127R, D374Y, F216L, R496W	80				Resolight	LC480							PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical..	Kaya, Kay?kç?o?lu, Tetik Vardarl?, Ero?lu, Payz?n, Can	2017
SAA1	1669	5	221	280		LC480							Variant screening of the serum amyloid A1 gene and functional study of the..	Leow, Wen Bin Goh, Tan, Lim, Ng, Min-Sen Oh, Fatt-Hoe Low, Heng	2013
SCARB2	1390					LS							The Role of SCARB2 as Susceptibility Factor in Parkinson’s Disease	Hopfner, Schulte, Mollenhauer, Bereznai, Knauf, Lichtner, Zimprich, Haubenberger, Pirker, Brücke, Peters, Gieger, Kuhlenbäumer, Trenkwalder, Winkelmann	2013
SCARB2	103												Novel SCARB2 mutation in Action Myoclonus- Renal Failure syndrome and..	Hopfner	2011
SCL25A13	123	22	200	382		LC480							Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency..	Chen, Su, Ni, Hwu, Lee, Chien, Chang, Chen, Chang	2012
SCN10A	490												Novel SCN10A variants associated with Brugada syndrome	Fukuyama, Ohno, Makiyama, Horie	2015
SCN1A	49					RG							Polymorphisms of the SCN1A gene in children and adolescents with primary..	Toldo	2011
SCN1A	1				ResoLight	LC480							A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation	Le Gal	2010
SCN2A	328	36	220	909		LC480							Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome	Nakamura, Kato, Osaka, Yamashita, Nakagawa, Haginoya, Tohyama, Okuda, Wada, Shimakawa, Imai, Takeshita, Ishiwata, Lev, Lerman-Sagie, Cervantes-Barragán, Villarroel, Ohfu, Writzl, Gnidovec Strazisar, Hirabayashi, Chitayat, Myles Reid, Nishiyama, Kodera, Na	2013
SCN5A	40	37	152	394	SYTO 9 (2.5 ÂµM)	RG	100	86			0		Rapid, sensitive and inexpensive detection of SCN5A genetic variations by..	Millat, Chanavat, Rodriguez-Lafrasse, Rousson	2009
SCN5A	40	37	152	394	ResoLight	RG	100	86			0		Rapid, sensitive and inexpensive detection of SCN5A genetic variations by..	Millat, Chanavat, Rodriguez-Lafrasse, Rousson	2009
SCN5A	10					LS							Whole-genome amplified DNA from stored dried blood spots is reliable in..	Winkel	2011
SCN5A	48	39			EvaGreen	RG							Feasibility of analysis of the SCN5A gene in paraffin embedded samples in..	van Deventer, du Toit-Prinsloo, van Niekerk	2018
SERPINE2	897	5	184	373	LCGreen Plus	LS	96.6	226	90.6	287	50.8	61	High-resolution melting curve analysis of genomic and whole-genome..	Cho, Ciulla, Klanderman, Raby, Silverman	2008
SERPINE2	897	5	184	373	LCGreen Plus	LS	98.2	274	98.6	289	50.8	61	High-resolution melting curve analysis of genomic and whole-genome..	Cho, Ciulla, Klanderman, Raby, Silverman	2008
SETBP1	363	1	82	82	LCGreen Plus	LS	5						SETBP1 mutations in Chinese patients with acute myeloid leukemia and..	Yao, Zhou, Yang, Zhang, Ma, Wen, Yao, Xu, Wu, He, Qian, Lin	2018
SF3B1	192	3	51	119	LCGreen Plus	LS							Development of a High-Resolution Melting Analysis for the Detection of the..	Yang, Qian, Lin, Yang, Qian, Chen, Yao, Wang, Chen, Xiao, Ma	2013
SF3B1	67	6	203	261	EvaGreen	CFX96							Evaluation of SF3B1 Mutation Screening by High-Resolution Melting Analysis..	Mizuta, Yamane, Komai, Koba, Ukyo, Tamekane, Watanabe	2019
SFTPB	897	2	164	269	LCGreen Plus	LS	98.2	274	98.6	289	50.8	61	High-resolution melting curve analysis of genomic and whole-genome..	Cho, Ciulla, Klanderman, Raby, Silverman	2008
SH2B1	1014				LCGreen Plus	LC480							Genetic and structural variation in the SH2B1 gene in the Belgian..	Aerts, Beckers, Zegers, Van Camp, Van Hoorenbeeck, Massa, Verrijken, Mertens, Verhulst, Rooman, Van Gaal, Van Hul	2015
SHOX	15		57	332	LCGreen Plus	HR-96							Clinical and molecular characterization of Chilean patients with..	Rodríguez, Unanue, Hernandez, Basaure, Heath, Cassorla	2013
SIM1	561	14				LC480							Mutation screen of the SIM1 gene in pediatric patients with early-onset..	Zegers	2014
SIM1, MRAP2	109	4			LCGreen Plus	LC480							Copy number variation (CNV) analysis and mutation analysis of the..	Geets, Zegers, Beckers, Verrijken, Massa, Van Hoorenbeeck, Verhulst, Van Gaal, Van Hul	2016
SIX1	50				EvaGreen	RG							SIX1 gene: absence of mutations in children with isolated congenital..	Negrisolo	2014
SLC1A2	1099	18				LC480							Association of rare variation in the glutamate receptor gene SLC1A2 with..	Fiorentino	2015
SLC22A5	21	13	119	312	SYBR Green I	HR-1	100	15			30	10	Validation of dye-binding/high-resolution thermal denaturation for the..	Dobrowolski, McKinney, Amat di San Filippo, Giak Sim, Wilcken, Longo	2005
SLC22A5	324				LCGreen Plus	HR-1							Cardiomyopathy and carnitine deficiency	Amat di San Filippo	2008
SLC25A13	3	1			ResoLight	LC480	100	3	100	3			Clinical investigation and mutation analysis of a child with citrin..	Wen, Wang, Chen, Liu, Cui, Shang, Li	2013
SLC25A13	105	5			LCGreen Plus	HR-1							High resolution melting analysis for the detection of SLC25A13 gene..	Lin	2011
SLC25A13	2428	2			EvaGreen	CFX96							Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong,..	Zhang	2014
SLC25A13 and SLC25A15	147				LCGreen Plus	LS							Genetic Variation in the Urea Cycle: A Model Resource for Investigating..	Mitchell	2009
SLC26A4	185					LC480							Screening of SLC26A4 gene in autoimmune thyroid diseases	Kallel, Niasme-Grare, Belguith-Maalej, Mnif, Abid, Ayadi, Masmoudi, Jonard, Hadj Kacem	2013
SLC26A4	128					LC480							Screening of SLC26A4 gene in autoimmune thyroid diseases	Kallel, Niasme-Grare, Belguith-Maalej, Mnif, Abid, Ayadi, Masmoudi, Jonard, & Kacem	2013
SLC26A4	87	28	87	226	SYTO 9								Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing..	Chen	2011
SLC26A4	44				EvaGreen	RG							Identification of SLC26A4 Mutations in Patients with Hearing Loss and..	Mercer	2011
SLC26A4	88	26	91	257	Syto 9	7500 Fast							Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic..	Carvalho, Grangeiro, Picanco-Albuquerque, dos Anjos, De Molfetta, Silva Jr, Ferraz	2018
SLC33A1	220	10	206	298	ResoLight	LC480							A total of 220 patients with autosomal dominant spastic paraplegia do not..	Schlipf	2010
SLC4A1	131	1	210	210	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	131	1	318	318	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	131	1	172	172	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	131	1	224	224	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	131	1	122	122	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	131	1	116	116	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	131	1	114	114	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	131	1	175	175	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2009
SLC4A1	34	1	235	235	ResoLight	LC480					0		Rapid detection of solute carrier family 4, member 1 (SLC4A1)	Nettuwakul, Sawasdee, Yenchitsomanus	2010
SLC4A1	16	18	114	491	ResoLight	LC480 II							Rapid detection of solute carrier family 4, member 1 (SLC4A1) mutations..	Nettuwakul	2010
SLC4A1, SAO, G701D	10	2	173	318	Resolight	LC480							Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1)..	Deejai, Wisanuyotin, Nettuwakul, Khositseth, Sawasdee, Saetai, Yenchitsomanus, Rungroj	2019
SMAD2, SMAD3, SMAD4, SMAD7	388	3			Syto 9	LC480							Genetic variants of SMAD 2 3 4 7 are associated with susceptibility to..	Yamashita, Inamine, Suzuki, Fukuda, Unoike, Kawafuchi, Machida, Isomoto, Nakao, Tsukamoto	2019
SMARCB1, SMARCA4, or ARID1B	52												Coffin–Siris syndrome is a SWI/SNF complex disorder	Tsurusaki, Okamoto, Ohashi, Mizuno, Matsumoto, Makita, Fukuda, Isidor, Perrier, Aggarwal, Dalal, Al-Kindy, Liebelt, Mowat, Nakashima, Saitsu, Miyake, Matsumoto	2013
SMN1	60	1	100	100	LCGreen Plus	LC480							High-resolution melting (HRM) analysis as a feasible method for detecting..	Er, Kan, Su, Liu, Chang, Hung, Jong	2012
SMN1	43	3	183	241	ResoLight	LC480							Diagnosis of Spinal Muscular Atrophy Via High-Resolution Melting Analysis..	Morikawa	2011
SMN1	70	2			ResoLight	LC480 II	100	140	100	140			A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy:..	Sa'adah, Harahap, Nurputra, Rochmah, Morikawa, Nishimura, Sadewa, Astuti, Haryana, Saito, Saito, Nishio	2015
SMN1 and SMN2	2300	1	52	52	LCGreen Plus	LS							Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon..	Dobrowolski, Pham, Puch-Downes, Prior, Naylor, Swoboda	2012
SMN1 and SMN2	453	2	115	143	LCGreen Plus	HR-1							Evaluation and characterization of a high-resolution melting analysis kit..	Wang, Chang, Chang, Wang, Chiang, Tsai	2015
SNCA	28	5	97	209	LCGreen Plus	LS	99	139					Somatic Alpha-Synuclein Mutations in Parkinson’s Disease: Hypothesis and..	Proukakis, Houlden, Schapira	2013
SNCA	511	5	97	209									Analysis of Parkinson’s Disease Brain–Derived DNA for Alpha- Synuclein..	Proukakis	2014
SOD1	484	17	195	488	EvaGreen	ABI 7500							Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the..	Kovac, Luksic, Podkrajsek, Klancar, Battelino	2013
SOD1	184				LCGreen Plus								High-ResolutionMelting (HRM) Analysis of the Cu/Zn Superoxide Dismutase..	Akimoto	2011
SOD1 and TARDBP	61												Clinical heterogeneity in Italian patients with amyotrophic lateral..	Piaceri, Del Mastio, Tedde, Bagnoli, Latorraca, Massaro, Paganini, Corrado, Sorbi, Nacmias	2012
SPATA7	141	4	270	409	LCGreen Plus	LS							Screening of SPATA7 in Patients with Leber Congenital Amaurosis and Severe..	Mackay	2011
SRSF2	108	1	48	48	LCGreen Plus	ABI 7300							Detection of SRSF2-P95 Mutation by High- Resolution Melting Curve Analysis..	Lin	2014
ST18	28	1	72	72	Resolight	LC480							High resolution melting analysis to screen the ST18 gene functional risk..	De Bonis, De Paolis, Scaglione, Fania, Lavieri, Mazzanti, Di Zenzo, Minucci, Capoluongo	2019
STAT3	96				LCGreen Plus	LS							Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE..	Kumanovics	2010
STK11	41	13	159	249	EvaGreen	RG	100						High Resolution Melting analysis as a rapid and efficient method of..	Borun, Bartkowiak, Banasiewicz, Nedoszytko, Nowakowska, Teisseyre, Limon, Lubinski, Kubaszewski, Walkowiak, Czkwianianc, Siolek, Kedzia, Krokowicz, Cichy, Plawski	2013
STXBP1	1	1				RG							Paternal mosaicism of an STXBP1 mutation in OS	Saitsu	2011
SY254 and SY1191	13	2	76	79	EvaGreen	RG							Regulation of H2O2 stress-responsive genes through a novel transcription..	Pearson, Morf, Singh	2012
SYNE1	937	25			EvaGreen, Syto 9, LCG+	LC480							Identification of rare nonsynonymous variants in SYNE1/CPG2 in bipolar..	Sharp, Lange, Kandaswamy, Daher, Anjorin, Bass, McQuillin	2017
TAP63	112	8	<100	<100	LCGreen Plus	HR96							No TAP63 promoter mutation is detected in bladder exstrophy–epispadias..	Darling, Mahfuz, White, Cheng	2013
TBG	118	1	102	102									Novel frameshift mutation causes early termination of the..	Dang, Xiao, Shan, Xi, Wang, Yu, Teng, Teng	2019
TBX20	38	10			EvaGreen								Novel Mutations in the Transcriptional Activator Domain of the Human TBX20..	Monroy-Muñoz	2015
TBX5	695	16	243	496		LC 96							Identification of a novel and functional mutation in the TBX5 gene in a..	Chen, Zhang, Hou, Wang, Yang, Wang, He	2017
TGFB1	897	1	316	316	LCGreen Plus	LS	98.2	274	98.6	289	50.8	61	High-resolution melting curve analysis of genomic and whole-genome..	Cho, Ciulla, Klanderman, Raby, Silverman	2008
THAP1	610				ResoLight	LC480							Prevalence of THAP1 Sequence Variants in German Patients with Primary..	Sohn	2010
THAP1	1210					LC480							Novel THAP1 sequence variants in primary dystonia	Xiao	2010
TLR4, IL6, IL1 beta and IL12RB	109	4	105	241	EvaGreen	RG							Rapid multiplex high resolution melting method to analyze inflammatory..	Pereyra, Velazquez, Bertoni, Sapiro	2012
TMC1	1				EvaGreen	RG							Next-generation sequencing reveals a novel pathological mutation in..	Sadeghian, Tabatabaiefar, Fattahi, Pourreza, Tahmasebi, Alavi, Chaleshtori	2019
TMPRSS6	145	13	139	238	LCGreen Plus	LS							Rapid, accurate detection of TMPRSS6 gene causative mutations with a..	Wu	2011
TNF-?	130	5	134	179	EvaGreen	RG							The Study of Association Between Polymorphism of TNF-? Gene's Promoter..	Aboutorabi, Behzadi, Sadegh, Fatehi, Semsarzadeh, Zarrin, Kazemi, Rafiee, Mostafavi	2018
TNNI3	115	7	177	366	SYTO 9	RG							Diagnostic disparity and identification of two TNNI3 gene mutations, one..	Mouton, Pellizzon, Goosen, Kinnear, Herbst, Brink, Moolman-Smook	2015
TNNI3	20	8			SYTO 9	RG							Identification of Rare Variants in TNNI3 with Atrial Fibrillation in a..	Wang, Wu, Qian, Li, Tu, Xu, Li, Chen, Zhao, Huang, Shi, Cheng, Liao, Chen, Xia, Yao, Wu, Cheng, Wang	2016
TOMM40, APOC1	230				EvaGreen	Bio-Rad							Biothiols and oxidative stress markers and polymorphisms of TOMM40 and..	Prendecki, Wyspianska, Kowalska, Ilkowski, Grzelak, Bialas, Wiszniewska, Kozubski, Dorszewska	2018
TOR1A	1014	2	205	314	ResoLight	LC480							High-throughput mutational analysis of TOR1A in primary dystonia	Xiao	2009
TP53	15				LCGreen Plus, SYBR Green I	LS							DMSO increases mutation-scanning detection sensitivity in clinical samples..	Song, Castellanos-Rizaldos, Bejar, Ebert, Makrigiorgos	2015
TP53	32	4	18	22	EvaGreen	LS							A refined method to study gene dosage changes in vitro using CRISPR/Cas9	Raposo, Ebili, Ilyas	2017
TP53, SMAD4	17	3	53	80	EvaGreen	LS 96							QMC-PCRx: a novel method for rapid mutation detection	Ebili, Hassall, Asiri, Ham-Karim, Fadhil, Agboola, Ilyas	2017
TPMT	274	8	122	249	LCGreen Plus	LC480							High-resolution Melting Analysis of the TPMT Gene: A Study in the Polish..	Skrzypczak-Zielinska	2013
TRPC6	364	16	271	420	ResoLight	LC480							TRPC6 Gene Variants in Czech Adult Patients with Focal Segmental..	Obeidova, Reiterová, Ln?ni?ka, Štekrová, Šafránková, Kohoutová, Tesa?	2012
TRPV1	183	3			SYTO 9	RG							Association between single nucleotide polymorphisms of the transient..	Song, Park, Park, Chung, Lee, Cho, Park, Cho, Lee, Joo	2012
TSC1 and TSC2	30				LCGreen Plus	LC480							High-Resolution Melting Analysis Is a More Effective Approach for..	Tsai	2011
TSHR	6	13	129	273		LC480							A Newly Discovered TSHR Variant (L665F) Associated With Nonautoimmune..	Jaeschke	2014
TTBK2	148				ResoLight	LC480							Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant..	Bauer	2010
TUBB4A	575				ResoLight	LC480	100						Pathogenic variants in TUBB4A are not found in primary dystonia	Vemula	2014
TUBB4A	1085												Large-scale TUBB4A mutational screening in isolated dystonia and controls	Zech, Boesch, Jochim, Graf, Lichtner, Peters, Gieger, Mueller, Poewe, Haslinger, Winkelmann	2015
UGT1A1	110	24	140	400	ResoLight	LC480							Comprehensive Analysis of UGT1A1 Polymorphisms through High-Resolution..	Tsai	2014
UL97	3	1			LCGreen Plus	HR-1							Genotyping cytomegalovirus UL97 mutations by high-resolution melting..	Zhao	2012
USH2A	15	1			EvaGreen	RG							Seven novel mutations in the long isoform of the USH2A gene in Chinese..	Xu	2011
USH2A, RDH12, TULP1, PDE6B, CERKL, CRB1, BBS1, C2orf71, ABCA4, CRB1	873												Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity..	Sanchez-Alcudia	2014
VKORC1	12	5	78	190	LCGreen Plus	LC 1.5							Spatial DNA Melting Analysis for Genotyping and Variant Scanning	Crews	2009
VP6, 3' NCR, ORF1, GP1	20	4	186	474	EvaGreen	RG							Probe-free and sensitive detection of diarrhea-causing pathogens using..	Wang, Mo, Wang, Wu, Feng, Lin, Yang	2016
VPS35	1320	1			LCGreen Plus	LS							VPS35 Mutation in Japanese Patients with Typical Parkinson’s Disease	Ando, Funayama, Li, Kashihara, Murakami, Ishizu, Toyoda, Noguchi, Hashimoto, Nakano, Sasaki, Kokubo, Kuzuhara, Ogaki, Yamashita, Yoshino, Hatano, Tomiyama, Hattori	2012
VSX1	257	1			ResoLight	RG							Screening the visual system homeobox 1 gene in keratoconus and posterior..	Vincent, Jordan, Sheck, Niederer, Patel, McGhee	2013
VWF	10	2			ResoLight	LC480							Molecular characterization, recombinant protein expression, and mRNA..	Solimando, Baronciani, La Marca, Cozzi, Asselta, Canciani, Federici, Peyvandi	2012
WNT10B	1079				LCGreen Plus	LC480							Mutation analysis of WNT10B in obese children, adolescents and adults	Van Camp, Zegers, Verhulst, Hoorenbeeck, Massa, Verrijken, Desager, Van Gaal, Van Hul, Beckers	2013
WT1	100				Syto 9	StepOnePlus							Screening of WT1 mutations in exon 8 and 9 in children with steroid..	Siji, Pardeshi, Ravindran, Vasudevan, Vasudevan	2017
ZFX, ZFY	1373	1	96	96	Syto 9	LC 480 II							Rapid screening for Klinefelter syndrome with a simple high-resolution..	Fu, Zhou, Zhao, Hu, Xu, Lv, Hu, Xia, Guo	2018

Heterozygote Scanning Of Human Genetic Disorders

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