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Medically Actionable Gene Panel | Report ACMG

€49.00 EUR

Medically Actionable Gene Panel | Report ACMG

€49.00 EUR
description

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


This report analyses genes that were identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG), meaning that there are established clinical management guidelines for their linked conditions. The ACMG recommends that variants detected in any of these genes be reported on, as they are of medical relevance and this information could be used to conduct future medical treatment.

The diseases analysed are the following:

  • 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