ACMG Panel - Dante Labs

Report ACMG

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Per favore nota che questi report sono raccomandati solo per Test del Genoma Completo con copertura 30X e superiore

 (Non compatibile con il Test WGL Longreads)

 

Il Report Patologico di Dante Labs analizza i 59 geni identificati come clinicamente attendibili dall’American College of Medical Genetics and Genomics (ACMG; Kalia et al., 2017).

Questi geni sono clinicamente attendibili, con linee guida di gestione clinica stabilite per le loro condizioni associate.

 

Lista delle patologie individuate:

  • Familial adenomatous polyposis (FAP)
  • Hereditary breast and ovarian cancer (HBOC)
  • Li-Fraumeni syndrome (LFS)
  • Peutz-Jeghers syndrome (PJS)
  • Lynch syndrome – conosciuta anche come 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

 

Lista dei geni:

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.