ACMG Panel

€49.00 EUR €99.00 EUR saving €50.00 EUR
ACMG Panel - Dante Labs

ACMG Panel

€49.00 EUR €99.00 EUR saving €50.00 EUR
description

Please note that these reports are recommended only for Whole Genome Test with 30X and up coverage

 

The Dante Labs 59 Gene Actionable Disorders Panel analyzes the 59 genes identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG; Kalia et al., 2017).

These genes are medically actionable, with clinical management guidelines established for their associated conditions.

 

List of diseases screened:

  • Familial adenomatous polyposis (FAP)
  • Hereditary breast and ovarian cancer (HBOC)
  • Li-Fraumeni syndrome (LFS)
  • Peutz-Jeghers syndrome (PJS)
  • Lynch syndrome – also known as hereditary non-polyposis colorectal cancer (HNPCC)
  • MUTYH-associated polyposis (MAP)
  • Von Hippel-Lindau syndrome (VHL)
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Multiple endocrine neoplasia type 2 (MEN2)
  • Familial medullary thyroid cancer
  • PTEN hamartoma tumor syndrome
  • Retinoblastoma
  • Hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC)
  • Tuberous sclerosis complex (TSC)
  • WT1-related Wilms tumor
  • Neurofibromatosis type 2 (NF2)
  • Juvenile polyposis syndrome (JPS)
  • Marfan syndrome
  • Loeys-Dietz syndrome (LDS)
  • Thoracic aortic aneurysms and/or dissections (TAAD)
  • Ehlers-Danlos syndrome, vascular type
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Romano-Ward long-QT syndrome
  • Brugada syndrome (BrS)
  • Familial hypercholesterolemia (FH)
  • Wilson disease
  • Malignant hyperthermia susceptibility (MHS)
  • Ornithine transcarbamylase (OTC) deficiency



List of genes:

APC,MYH11,ACTA2,TMEM43,DSP,PKP2,DSG2,DSC2,BRCA1,BRCA2,SCN5A,
RYR2,LMNA,MYBPC3,COL3A1,GLA,APOB,LDLR,MYH7,TPM1,MYBPC3,
PRKAG2,TNNI3,MYL3,MYL2,ACTC1,RET,PCSK9,BMPR1A,SMAD4,TNNT2,
TP53,TGFBR1,TGFBR2,TGFBR1,TGFBR2,SMAD3,KCNQ1,KCNH2,SCN5A,
MLH1,MSH2,MSH6,PMS2,PMS2,RYR1,CACNA1S,FBN1,TGFBR1,MEN1,
RET,,MUTYH,NF2,OTC,SDHD,SDHAF2,SDHC,SDHB,STK11,MUTYH,PTEN,
RB1,TSC1,TSC2,VHL,WT1,ATP7B.