Erythrocytosis, Familial, 2; Ecyt2

Description

Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO ), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).

Clinical Features

Top most frequent phenotypes and symptoms related to Erythrocytosis, Familial, 2; Ecyt2

  • Pica
  • Milia
  • Neoplasm
  • Fatigue
  • Headache
  • Carcinoma
  • Stroke
  • Hypotension
  • Hemangioma
  • Cerebral hemorrhage
And another 14 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Erythrocytosis, Familial, 2; Ecyt2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
VHL Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

VHL
Specificity
100 %
Genes
100 %
VHL Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

VHL
Specificity
100 %
Genes
100 %
VHL Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

VHL
Specificity
100 %
Genes
100 %
VHL Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

VHL
Specificity
100 %
Genes
100 %
VHL Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

VHL
Specificity
100 %
Genes
100 %
VHL Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

VHL
Specificity
100 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
6 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
6 %
Genes
100 %
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, PTEN, WT1, SDHAF2, SDHC, FH, SDHB, SDHA, CDKN1C, SDHD, FLCN, MET, GPC3
Specificity
8 %
Genes
100 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, SDHA, SDHD, MAX
Specificity
12 %
Genes
100 %
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, TSHR, SDHD, MAX, PRKAR1A, CDC73
Specificity
7 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Von Hippel-Lindau Syndrome (VHL) Evaluation.

By Athena Diagnostics Inc in United States.

VHL
Specificity
100 %
Genes
100 %
Pheochromocytoma Evaluation.

By Athena Diagnostics Inc in United States.

VHL, RET, SDHB
Specificity
34 %
Genes
100 %
Von Hippel-Lindau syndrome.

By Center for Human Genetics, Inc in United States.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau Syndrome - VHL Sequencing.

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

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau Syndrome - VHL Del/Dup Analysis.

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

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau, VHL, Sequencing.

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

VHL
Specificity
100 %
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 %
Ciliopathies.

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

VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
von Hippel-Lindau Disease (VHL): VHL (OPT) (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau Disease (VHL): VHL (NEP) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau Disease (VHL): VHL (OPT) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau Disease (VHL): VHL (NEP) (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL
Specificity
100 %
Genes
100 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, RB1, MEN1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, NF1, SMARCB1
Specificity
6 %
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 %
VistaSeq Pancreatic Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A
Specificity
8 %
Genes
100 %
VistaSeq Endrocrine Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, PTEN, TP53, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, CDC73, NF1
Specificity
8 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, SDHAF2, RET, SDHC, FH, SDHB, ANKRD26, TMEM127 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Pheochromocytoma and Paraganglioma Panel.

By Genetic Services Laboratory University of Chicago in United States.

VHL, SDHAF2, RET, KIF1B, SDHC, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, NF1, EPAS1, EGLN1
Specificity
8 %
Genes
100 %
Von Hippel-Lindau Syndrome.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

VHL
Specificity
100 %
Genes
100 %
Hereditary Phaeochromocytoma/Paraganglioma Syndromes (MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL).

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

VHL, SDHAF2, SDHC, SDHB, TMEM127, SDHD, MAX
Specificity
15 %
Genes
100 %
VHL.

By Institute for Human Genetics University Clinic Freiburg in Germany.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau disease.

By Service de Génétique Gustave Roussy in France.

VHL
Specificity
100 %
Genes
100 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics 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 27 more genes
Specificity
3 %
Genes
100 %
Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

VHL, MSH2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, BAP1
Specificity
7 %
Genes
100 %
von Hippel-Lindau (VHL) Del/Dup.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau (VHL) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau (VHL) Seq and Del/Dup.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

VHL
Specificity
100 %
Genes
100 %
VHL Gene Sequencing.

By GeneDx in United States.

VHL
Specificity
100 %
Genes
100 %
Comprehensive Cancer Panel.

By GeneDx in United States.

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

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Oncology High/Moderate Risk Panel.

By GeneDx in United States.

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

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

By GeneDx in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDK4, CDKN2A, XRCC2
Specificity
7 %
Genes
100 %
OncoGeneDx Custom Panel.

By GeneDx in United States.

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

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel.

By GeneDx in United States.

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, NF1
Specificity
9 %
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 %
Hereditary Cancer Panel - Neuro17.

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

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, NF1
Specificity
6 %
Genes
100 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17.

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

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, TSC2, TSC1, SDHD, MAX, PRKAR1A, CDC73, NF1
Specificity
6 %
Genes
100 %
Hereditary Cancer Panel - Pancreatic14.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A
Specificity
8 %
Genes
100 %
von Hippel Lindau disease.

By Genetic Pathology SA Pathology in Australia.

VHL
Specificity
100 %
Genes
100 %
BrainTumorNext.

By Ambry Genetics in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, CDKN2A, PRKAR1A, NF1 , (...)

View the complete list with 7 more genes
Specificity
4 %
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 %
PGLNext.

By Ambry Genetics in United States.

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, NF1
Specificity
9 %
Genes
100 %
RenalNext.

By Ambry Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, BAP1
Specificity
6 %
Genes
100 %
VHL gene sequence and deletion/duplication.

By Ambry Genetics in United States.

VHL
Specificity
100 %
Genes
100 %
VHL. Complete sequencing.

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

VHL
Specificity
100 %
Genes
100 %
VHL. MLPA testing.

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

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau - VHL Sequence and Del/Dup Analysis.

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

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau - VHL Sequence Analysis.

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

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau - VHL Deletion/Duplication Analysis.

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

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau - VHL Known Point Mutation Analysis.

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

VHL
Specificity
100 %
Genes
100 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

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

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, NF1
Specificity
9 %
Genes
100 %
Hereditary Endocrine Cancer Panel.

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

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, PRKAR1A, CDC73, CDKN1B
Specificity
7 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDK4, CDKN2A, BMPR1A, SMAD4, PRSS1
Specificity
6 %
Genes
100 %
Hereditary Brain Tumor Panel.

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

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, SMARCB1
Specificity
6 %
Genes
100 %
Hereditary Kidney Cancer Panel.

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

VHL, MSH2, MSH6, MLH1, PTEN, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1, BAP1
Specificity
5 %
Genes
100 %
Von Hippel-Lindau syndrome (deletion/duplication analysis of VHL gene).

By CGC Genetics in Portugal.

VHL
Specificity
100 %
Genes
100 %
von Hippel-Lindau syndrome (sequence analysis of VHL gene).

By CGC Genetics in Portugal.

VHL
Specificity
100 %
Genes
100 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, MEN1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

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 69 more genes
Specificity
2 %
Genes
100 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

VHL, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, PRKAR1A, NF1, EGLN1, GDNF
Specificity
7 %
Genes
100 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

VHL, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, PRKAR1A, NF1, EGLN1, GDNF
Specificity
7 %
Genes
100 %
Von Hippel-Lindeau Syndrome (VHL).

By Medical Genomics Laboratory Department of Genetics UAB in United States.

VHL
Specificity
100 %
Genes
100 %
VHL-Related Pheochromocytoma.

By Exeter Molecular Genetics Laboratory in United Kingdom.

VHL
Specificity
100 %
Genes
100 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, NBN, PALB2, CDH1, STK11, CDK4 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Von Hippel-Lindau Disease via VHL Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL
Specificity
100 %
Genes
100 %
Pancreatic Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDK4, CDKN2A, PALLD
Specificity
7 %
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 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, NF1
Specificity
9 %
Genes
100 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, INVS, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1, OFD1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Renal cell carcinoma / von Hippel-Lindau syndrome.

By Institute of Human Genetics Cologne University in Germany.

VHL
Specificity
100 %
Genes
100 %
Renal cell carcinoma.

By Institute of Human Genetics Cologne University in Germany.

VHL, HNF1B, TSC2, TSC1, FLCN, MET, MAX, CDKN1B, DICER1, DIS3L2, WT1-AS
Specificity
10 %
Genes
100 %
Endocrine tumours.

By Institute of Human Genetics Cologne University in Germany.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, CDKN1B
Specificity
10 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
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 %
VHL gene sequencing and deletion/duplication analysis.

By Molecular Diagnostics Laboratory University Health Network in Canada.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau Disease.

By MGZ Medical Genetics Center in Germany.

VHL
Specificity
100 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Renal Cancer.

By MGZ Medical Genetics Center in Germany.

VHL, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, GPC3, CHEK2, SMARCB1, BAP1
Specificity
7 %
Genes
100 %
Pheochromozytoma-Paraganglioma syndrome.

By MGZ Medical Genetics Center in Germany.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, NF1
Specificity
10 %
Genes
100 %
Von Hippel-Lindau Disease.

By Bioscientia GmbH Center for Human Genetics in Germany.

VHL, CCND1
Specificity
50 %
Genes
100 %
von Hippel Lindau syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

VHL
Specificity
100 %
Genes
100 %
VHL.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VHL
Specificity
100 %
Genes
100 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
von Hippel-Lindau syndrome.

By Centogene AG - the Rare Disease Company in Germany.

VHL
Specificity
100 %
Genes
100 %
Renal cell carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

VHL
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Pheochromocytoma type 6.

By Centogene AG - the Rare Disease Company in Germany.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau syndrome.

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

VHL
Specificity
100 %
Genes
100 %
Pheochromocytoma and Paraganglioma Panel.

By CeGaT GmbH in Germany.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, PRKAR1A, NF1, CDKN1B
Specificity
8 %
Genes
100 %
Pancreatic cancer Panel.

By CeGaT GmbH in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A, SPINK1, PRSS1, PALLD
Specificity
6 %
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 VHL.

By CeGaT GmbH in Germany.

VHL
Specificity
100 %
Genes
100 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1
Specificity
6 %
Genes
100 %
von Hippel-Lindau Syndrome (Familial Cerebelloretinal Angiomatosis).

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

VHL
Specificity
100 %
Genes
100 %
Von Hippel Lindau syndrome, VHL.

By GGA - Galil Genetic Analysis in Israel.

VHL
Specificity
100 %
Genes
100 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia.

By BLOODGENETICS BLOODGENETICS in Spain.

VHL, SH2B3, JAK2, EPOR, EPAS1, EGLN1, BPGM
Specificity
15 %
Genes
100 %
VHL syndrome, VHL sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

VHL
Specificity
100 %
Genes
100 %
VHL syndrome, VHL sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

VHL
Specificity
100 %
Genes
100 %
Neurocutaneous Panel.

By Molecular Vision Laboratory in United States.

VHL, TSC2, TSC1, NF2, NF1, SPRED1, KIT
Specificity
15 %
Genes
100 %
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, SDHD).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

VHL, SDHC, SDHB, SDHD
Specificity
25 %
Genes
100 %
Von Hippel-Lindau syndrome (VHL).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau syndrome.

By Praxis fuer Humangenetik Wien in Austria.

VHL
Specificity
100 %
Genes
100 %
Inherited Cancer Screen.

By Counsyl in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, SDHC, SDHB, MEN1, SDHA, ATM, MRE11, NBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
VON HIPPEL LINDAU SYNDROME.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

VHL
Specificity
100 %
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 %
Von Hippel-Lindau syndrome.

By MedGene in Slovakia.

VHL
Specificity
100 %
Genes
100 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI).

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, MEN1, SDHA, TSC2, TSC1, ATM, NBN , (...)

View the complete list with 22 more genes
Specificity
3 %
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 Renal/Urinary Tract Cancers Panel.

By Invitae in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, FLCN, MET, GPC3, CDC73, SMARCA4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel.

By Invitae in United States.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, SDHA, SDHD, MAX, NF1
Specificity
10 %
Genes
100 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Invitae Pancreatic Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4, NF1
Specificity
5 %
Genes
100 %
Invitae von Hippel-Lindau Syndrome Test.

By Invitae in United States.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau syndrome: VHL gene sequence analysis.

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

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau syndrome: VHL gene deletions-duplications analysis (MLPA).

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

VHL
Specificity
100 %
Genes
100 %
ONCOLOGY, PANEL.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA.

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

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, NF1
Specificity
10 %
Genes
100 %
Von Hippel-Lindau Syndrome: VHL Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau Syndrome: VHL Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL
Specificity
100 %
Genes
100 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
Genes
100 %
Endocrine Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, PRKAR1A, CDC73, CDKN1B, AIP, MXD1
Specificity
7 %
Genes
100 %
Pheochromocytoma-Paraganglioma: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, SDHD, MAX
Specificity
13 %
Genes
100 %
Renal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, PTEN, WT1, FH, SDHB, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3
Specificity
10 %
Genes
100 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, APC, MSH2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
Genes
100 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 76 more genes
Specificity
2 %
Genes
100 %
Endocrine Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, CDC73
Specificity
8 %
Genes
100 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 75 more genes
Specificity
2 %
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 %
Paraganglioma-Pheochromocytomas NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, SDHAF2, RET, KIF1B, SDHC, SDHB, TMEM127, SDHA, SDHD, MAX, NF1, EGLN1
Specificity
9 %
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 %
VHL.

By Fulgent Genetics Fulgent Genetics in United States.

VHL
Specificity
100 %
Genes
100 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, FANCC, ATM, MRE11, NBN, PTCH1, PALB2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, HRAS, TSC2, TSC1, ALK, ATM, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Pancreatic Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, FANCC, TSC2, TSC1, ATM, PALB2, STK11, CDK4, CDKN2A, BMPR1A , (...)

View the complete list with 2 more genes
Specificity
5 %
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 %
Paraganglioma-Pheochromocytoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, SDHA, SDHD, MAX, NF1
Specificity
10 %
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 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, SDHC, SDHB, MEN1, ATM, NBN, PALB2, CDH1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
VHL Sequencing and Deletion/Duplication.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

VHL
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 51 more genes
Specificity
2 %
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 %
Hereditary Paraganglioma-Pheochromocytoma Panel.

By Blueprint Genetics in Finland.

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, SDHA, SDHD, MAX, NF1
Specificity
10 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, FANCC, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary Gastrointestinal Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Hereditary Endocrine Cancer Panel.

By Blueprint Genetics in Finland.

VHL, APC, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA, SDHD, MET, MAX, PRKAR1A, CDC73, NF1, CDKN1B, AIP , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary Renal Cancer Panel.

By Blueprint Genetics in Finland.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer High Risk Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
von Hippel Lindau.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" in Argentina.

VHL
Specificity
100 %
Genes
100 %
Focus::Renal® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

VHL, PTEN, TP53, RAF1, BRAF, TSC2, TSC1, ALK, PTCH1, MET, FGFR1, SETD2, KDM5C, MTOR, ARID1A, KIT, BAP1, PIK3CA, AKT2, FLT3 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Von Hippel-Lindau disease.

By Bioarray in Spain.

VHL
Specificity
100 %
Genes
100 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, MLH1, PTEN, TP53, PPARG, FGFR3, AR, BRAF, CREBBP, HRAS, NRAS, FGFR2, TSC2, TSC1, ATM, PTCH1, CDKN2A, MET , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Gynecologic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, RB1, BCOR, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ATM, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
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 %
iGene Cancer Panel.

By ApolloGen, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, NBN, PTCH1, PALB2, CDH1, STK11, CDKN2A , (...)

View the complete list with 5 more genes
Specificity
4 %
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 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Von Hippel-Lindau Syndrome (VHL).

By GeneKor MSA in Greece.

VHL
Specificity
100 %
Genes
100 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer Comprehensive Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
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 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ELAC2, RET, MEN1, FANCC, HRAS, ATM, MRE11, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
PHEOCHROMOCYTOMA-PARAGANGLIOMA.

By Laboratorio de Genetica Clinica SL in Spain.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, SDHA, SDHD, MAX
Specificity
12 %
Genes
100 %
PHEOCHROMOCYTOMA.

By Laboratorio de Genetica Clinica SL in Spain.

VHL
Specificity
100 %
Genes
100 %
RENAL CELL CARCINOMA TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

VHL
Specificity
100 %
Genes
100 %
VON HIPPEL-LINDAU SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau Disease, Sequencing VHL Gene.

By Reference Laboratory Genetics in Spain.

VHL
Specificity
100 %
Genes
100 %
Familial Erythrocytosis Type 2 , Sequencing VHL Gene.

By Reference Laboratory Genetics in Spain.

VHL
Specificity
100 %
Genes
100 %
Von Hippel-Lindau Disease, Deletions-Duplications (MLPA) VHL Gene.

By Reference Laboratory Genetics in Spain.

VHL
Specificity
100 %
Genes
100 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

VHL, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, SDHD, MAX, NF1
Specificity
10 %
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 %
Familial Erythrocytosis , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

VHL, EPOR, EPAS1, EGLN1
Specificity
25 %
Genes
100 %
Von Hippel-Lindau syndrome.

By Labor Dr. Wisplinghoff in Germany.

VHL
Specificity
100 %
Genes
100 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, HRAS, TSC2, TSC1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, CFTR, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Phosphorus Pancreatic Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4, NF1
Specificity
5 %
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 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 33 more genes
Specificity
2 %
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 %
Renal Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Renal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, MSH2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
Genes
100 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MSH2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
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 %
Endocrine Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, CDC73, CDKN1B, AIP
Specificity
7 %
Genes
100 %
Endocrine Cancer: gene deletion/duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, PTEN, TP53, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHD, MAX, PRKAR1A, CDC73
Specificity
8 %
Genes
100 %
Von Hippel-Lindau Syndrome: VHL Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL
Specificity
100 %
Genes
100 %
Pancreatic Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A, PRSS1
Specificity
8 %
Genes
100 %
Pancreatic Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A, PRSS1
Specificity
8 %
Genes
100 %
Pheochromocytoma-Paraganglioma: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, SDHD, MAX
Specificity
12 %
Genes
100 %
Pheochromocytoma-Paraganglioma: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, SDHD, MAX
Specificity
12 %
Genes
100 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, PTEN, TP53, WT1, RB1, RET, IDH2, BRAF, HRAS, KRAS, NRAS, FGFR2, MAP2K2, ATM, PTCH1, STK11, CDKN2A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Von Hippel-Lindau Syndrome: VHL Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL
Specificity
100 %
Genes
100 %

Alternate names

Erythrocytosis, Familial, 2; Ecyt2 Is also known as erythrocytosis, autosomal recessive benign, polycythemia, vhl-dependent, polycythemia, chuvash type;chuvash polycythemia; von hippel-lindau-dependent polycythemia.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

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