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Invitae ACMG Actionable Disorders Panel

Test description

The Invitae ACMG Actionable Disorders Panel analyzes the 59 genes prescribed by the American College of Medical Genetics and Genomics (ACMG). These genes are medically actionable, with clinical management guidelines established for their associated conditions.

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Primary panel (59 genes)

ACTA2 ACTC1 APC APOB ATP7B BMPR1A BRCA1 BRCA2 CACNA1S COL3A1 DSC2 DSG2 DSP FBN1 GLA KCNH2 KCNQ1 LDLR LMNA MEN1 MLH1 MSH2 MSH6 MUTYH MYBPC3 MYH11 MYH7 MYL2 MYL3 NF2 OTC PCSK9 PKP2 PMS2 PRKAG2 PTEN RB1 RET RYR1 RYR2 SCN5A SDHAF2 SDHB SDHC SDHD SMAD3 SMAD4 STK11 TGFBR1 TGFBR2 TMEM43 TNNI3 TNNT2 TP53 TPM1 TSC1 TSC2 VHL WT1

Alternative tests to consider

Invitae Genetic Health Screen

  • 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

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.