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.
|APC||Familial adenomatous polyposis|
|BMPR1A, SMAD4||Juvenile polyposis|
|BRCA1, BRCA2||Hereditary breast and ovarian cancer|
|MEN1||Multiple endocrine neoplasia type 1|
|MLH1, MSH2, MSH6, PMS2||Lynch syndrome|
|NF2||Neurofibromatosis type 2|
|PTEN||PTEN hamartoma tumor syndrome|
Familial medullary thyroid cancer (FMTC)
Multiple endocrine neoplasia type 2
|SDHAF2, SDHB, SDHC, SDHD||Hereditary paraganglioma- pheochromocytoma syndrome|
|TSC1, TSC2||Tuberous sclerosis complex|
|VHL||von Hippel Lindau syndrome|
Cardiac and/or blood vessel related
|COL3A1||Ehlers-Danlos syndrome, vascular type|
|FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11||Marfan syndrome, Loeys-Dietz syndromes, Familial thoracic aortic aneurysms and dissections|
|KCNQ1, KCNH2, SCN5A||Romano-Ward long QT syndrome types 1, 2, and 3, Brugada syndrome|
|LDLR, APOB, PCSK9||Familial hypercholesterolemia|
|ACTC1, GLA, LMNA, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1||Hypertrophic cardiomyopathy, Dilated cardiomyopathy|
|DSC2, DSG2, DSP, PKP2, TMEM43||Arrhythmogenic right ventricular cardiomyopathy|
|RYR2||Catecholaminergic polymorphic ventricular tachycardia|
A genetic disorder characterized by excess storage of copper
|OTC||Ornithine transcarbamylase deficiency|
A genetic disorder that causes ammonia to accumulate in the blood
|RYR1, CACNA1S||Malignant 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“.
- Kalia et al, 2017. Genet Med. 19(2):249-255. PMID: 27854360