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ACMG Report

$49.00

ACMG Report

$49.00
description

 This product is only meant for customers who already 
purchased a Sequencing Test

The Dante Labs 73 Gene Actionable Disorders Panel analyzes the 73 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
RET
BRCA1
BRCA2
PALB2
SDHD
SDHAF2
SDHC
SDHB
MAX
TMEM127
BMPR1A
SMAD4
TP53
MLH1
MSH2
MSH6
PMS2
MEN1
MUTYH
NF2
STK11
PTEN
RB1
TSC1
TSC2
VHL
WT1
FBN1
TGFBR1
TGFBR2
SMAD3
ACTA2
MYH11
PKP2
DSP
DSC2
TMEM43
DSG2
RYR2
CASQ2
TRDN
TNNT2
LMNA
FLNC
TTN
COL3A1
LDLR
APOB
PCSK9
MYH7
MYBPC3
TNNI3
TPM1
MYL3
ACTC1
PRKAG2i
MYL2
KCNQ1
KCNH2
SCN5A
BTD
GLA
OTC
GAA
HFE
ACVRL1
ENG
RYR1
CACNA1S
HNF1A
RPE65
ATP7B