Melanoma, Cutaneous Malignant, Susceptibility To, 8; Cmm8

Description

MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

Clinical Features

Phenotypes and symptoms related to Melanoma, Cutaneous Malignant, Susceptibility To, 8; Cmm8

  • Renal cell carcinoma
  • Cutaneous melanoma

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Melanoma, Cutaneous Malignant, Susceptibility To, 8; Cmm8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Waardenburg Syndrome Type 2.

By Center for Human Genetics, Inc in United States.

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome Type 2A - MITF Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome, Type 2 - MITF Gene.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

MITF
Specificity
100 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, GPC3, MITF
Specificity
6 %
Genes
100 %
MITF germline mutation.

By Service de Génétique Gustave Roussy in France.

MITF
Specificity
100 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Renal Cancer Panel.

By GeneDx in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
Genes
100 %
Hereditary Cancer Panel - Renal19.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF
Specificity
6 %
Genes
100 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
MelanomaNext.

By Ambry Genetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1
Specificity
13 %
Genes
100 %
MITF. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MITF
Specificity
100 %
Genes
100 %
MITF. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MITF
Specificity
100 %
Genes
100 %
MITF. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MITF
Specificity
100 %
Genes
100 %
Waardenburg Seq + Del/Dup Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Waardenburg Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Waardenburg Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Albinism (NGS panel for 12 genes).

By CGC Genetics in Portugal.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
9 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
100 %
Waardenburg syndrome type 2 (sequence analysis of MITF gene).

By CGC Genetics in Portugal.

MITF
Specificity
100 %
Genes
100 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, MITF, GDF6, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Waardenburg syndrome (NGS panel of 7 genes).

By CGC Genetics in Portugal.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
15 %
Genes
100 %
Waardenburg syndrome (NGS panel of 7 genes).

By CGC Genetics in Portugal.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
15 %
Genes
100 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
8 %
Genes
100 %
Waardenburg Syndrome Type IIA via MITF Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAX, OTX2, STRA6, HCCS, BCOR, SIX6, SOX2, MITF, GDF6, FOXE3, VSX2, CRYBA4, BMP4, TENM3, ALDH1A3, SMOC1, BMP7
Specificity
6 %
Genes
100 %
Renal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CHEK2, CDC73 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Melanoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, CHEK2, MITF, BAP1, POT1
Specificity
10 %
Genes
100 %
Hypopigmentation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Waardenburg syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
15 %
Genes
100 %
Waardenburg syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
15 %
Genes
100 %
Waardenburg syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
15 %
Genes
100 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Familial Melanoma panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

MC1R, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
17 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Waardenburg Syndrome Type IIA.

By Bioscientia GmbH Center for Human Genetics in Germany.

MITF
Specificity
100 %
Genes
100 %
Waardenburg syndrome/albinism.

By Centogene AG - the Rare Disease Company in Germany.

MITF
Specificity
100 %
Genes
100 %
Melanoma, cutaneous malignant.

By Centogene AG - the Rare Disease Company in Germany.

MITF
Specificity
100 %
Genes
100 %
Microphthalmia panel.

By Centogene AG - the Rare Disease Company in Germany.

RAX, OTX2, STRA6, HCCS, BCOR, SIX6, SOX2, MITF, VSX2, BMP4, TENM3, ALDH1A3, TENM1
Specificity
8 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Albinism.

By Centogene AG - the Rare Disease Company in Germany.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
Tietz albinism-deafness syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MITF
Specificity
100 %
Genes
100 %
Waardenburg syndrome, Type 2A.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MITF
Specificity
100 %
Genes
100 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Familial melanoma Panel.

By CeGaT GmbH in Germany.

PTEN, RB1, MC1R, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
13 %
Genes
100 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Renal cell carcinoma Panel.

By CeGaT GmbH in Germany.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, SDHAF2, HNF1B, SDHC, FH, SDHB, SDHA, TSC2, TSC1, PALB2, SDHD , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Single gene testing MITF.

By CeGaT GmbH in Germany.

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel.

By Molecular Vision Laboratory in United States.

TYRP1, OCA2, SLC45A2, RET, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Waardenburg Syndrome panel.

By Molecular Vision Laboratory in United States.

RET, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
15 %
Genes
100 %
MITF Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

MITF
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, TSC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Invitae Melanoma Panel.

By Invitae in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
12 %
Genes
100 %
Waardenburg, Syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Albinism.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
Albinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
Waardenburg Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, RB1, MC1R, TYR, CDK4, CDKN2A, ERCC3, MITF, TERT, WRN
Specificity
8 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Kidney Renal Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
Genes
100 %
Renal/Kidney NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
MITF.

By Fulgent Genetics Fulgent Genetics in United States.

MITF
Specificity
100 %
Genes
100 %
Melanoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, CHEK2, MITF, BAP1
Specificity
12 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Renal / Urinary Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Hirschsprung Disease Panel.

By Blueprint Genetics in Finland.

RET, RMRP, PHOX2B, L1CAM, KIF1BP, ZEB2, EDN3, PAX3, EDNRB, SOX10, MITF, BDNF, NRTN, NRG1, CELSR3
Specificity
7 %
Genes
100 %
Albinism Panel.

By Blueprint Genetics in Finland.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, MITF, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Waardenburg Syndrome Panel.

By Blueprint Genetics in Finland.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF, KIT
Specificity
15 %
Genes
100 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Melanoma and Skin Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, PTEN, TP53, PTCH1, SUFU, CDK4, CDKN2A, ERCC2, ERCC3, MITF, BAP1, ERCC4, POT1, WRN, ERCC5, XPA, XPC, DDB2
Specificity
6 %
Genes
100 %
Waardenburg syndrome type 2.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
100 %
Ocular albinism with congenital sensorineural deafness.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
100 %
Tietz syndrome.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
100 %
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer.

By Color Genomics, Inc. Color Genomics, Inc. in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
ALBINISM: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
8 %
Genes
100 %
WAARDENBURG SYNDROME TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

SNAI2, SOX10, MITF
Specificity
34 %
Genes
100 %
Albinisim panel.

By LifeLabs Genetics in Canada.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
10 %
Genes
100 %
Tietz Syndrome, Sequencing MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
100 %
Ocular Albinism with Late Sensory Deafness, Sequencing MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome Type II , Sequencing MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome Type 2A , Deletions-Duplications (MLPA) MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
100 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, HNF1B, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
100 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, PTEN, TP53, RB1, MC1R, CDK4, CDKN2A, MITF, TERT, BAP1
Specificity
10 %
Genes
100 %
Albinism , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
9 %
Genes
100 %
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

RAX, ABCB6, OTX2, STRA6, HCCS, BCOR, SIX6, SOX2, MITF, GDF6, VAX1, VSX2, BMP4, GDF3
Specificity
8 %
Genes
100 %
Phosphorus Melanoma Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
12 %
Genes
100 %
Phosphorus Renal/Urinary Tract Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
Phosphorus Common/High Risk Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %

Alternate names

Melanoma, Cutaneous Malignant, Susceptibility To, 8; Cmm8 Is also known as melanoma and renal cell carcinoma, susceptibility to;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PSORIASIS 14, PUSTULAR; PSORS14 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 BALLER-GEROLD SYNDROME; BGS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more