INCIDENTAL FINDINGS

Diagnostic Testing
with Genomic Unity®

Information about optional incidental findings

ACMG 59 genes

The American College of Medical Genetics and Genomics (ACMG) recommends reviewing and reporting pathogenic and expected pathogenic variants in a list of 59 genes1. They have recommended this list because the genes are related to conditions that are “actionable”, meaning that there are steps that can be taken to mitigate the onset or severity of the clinical outcome.

Patients for whom our Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis test is ordered have the choice to opt-in to receive pathogenic and expected pathogenic findings in these genes. Variants of uncertain significant (VUS) will not be reported.

 

Cancer related

GeneCondition
APCFamilial adenomatous polyposis
BMPR1A, SMAD4Juvenile polyposis
BRCA1, BRCA2Hereditary breast and ovarian cancer
MEN1Multiple endocrine neoplasia type 1
MLH1, MSH2, MSH6, PMS2Lynch syndrome
MUTYHMYH-associated polyposis
NF2Neurofibromatosis type 2
PTENPTEN hamartoma tumor syndrome
RB1Retinoblastoma
RET

Familial medullary thyroid cancer (FMTC)

Multiple endocrine neoplasia type 2

SDHAF2, SDHB, SDHC, SDHDHereditary paraganglioma- pheochromocytoma syndrome
STK11Peutz-Jeghers syndrome
TP53Li-Fraumeni syndrome
TSC1, TSC2Tuberous sclerosis complex
VHLvon Hippel Lindau syndrome
WT1Wilms’ tumor

Cardiac and/or blood vessel related

GeneCondition
COL3A1Ehlers-Danlos syndrome, vascular type
FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11Marfan syndrome, Loeys-Dietz syndromes, Familial thoracic aortic aneurysms and dissections
KCNQ1, KCNH2, SCN5ARomano-Ward long QT syndrome types 1, 2, and 3, Brugada syndrome
LDLR, APOB, PCSK9Familial hypercholesterolemia
ACTC1, GLA, LMNA, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1Hypertrophic cardiomyopathy, Dilated cardiomyopathy
DSC2, DSG2, DSP, PKP2, TMEM43Arrhythmogenic right ventricular cardiomyopathy
RYR2Catecholaminergic polymorphic ventricular tachycardia

Others

GeneCondition
ATP7BWilson disease
A genetic disorder characterized by excess storage of copper
OTCOrnithine transcarbamylase deficiency
A genetic disorder that causes ammonia to accumulate in the blood
RYR1, CACNA1SMalignant hyperthermia susceptibility
Individuals are susceptible to a severe reaction to anesthesia

 

Genes other than the ACMG 59

There are additional genes that are not part of the ACMG’s recommended set, but are similar in that they have some associated actionability that could impact medical management and decision making. 

Patients for whom our Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis test is ordered also have the choice to opt-in to receive pathogenic and expected pathogenic findings in these genes. Variants of uncertain significant (VUS) will not be reported. For examples of such genes, see our related post “Medically actionable genes that go beyond the ACMG set of 59”.

For more information about unavoidable versus optional incidental findings in general, read our related post “Unavoidable versus optional incidental findings: What you need to know“.

 

References
  1. Kalia et al, 2017. Genet Med. 19(2):249-255. PMID: 27854360

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