Hereditary Cancer

Innovative Gx Health (IGx) is a CAP-accredited, CLIA-certified laboratory offering next-generation sequencing to diagnose hereditary cancer syndromes. IGx’s hereditary cancer panels analyze both sequencing variants and copy number variants in genes associated with hereditary predisposition to cancer. Genetic testing for hereditary cancer syndromes offers the following benefits: provide information on the association between genetic mutations and cancer to your physician, predict disease prognosis and progression, facilitate early interventions and screenings, inform family planning, and promote enrollment in research studies.

People with hereditary cancer syndromes have a higher-than-average chance for developing certain types of cancers and often at earlier ages of diagnosis due to a genetic variant passed down in their family. Approximately 10% of people with cancer and those with a strong family history of cancer have a hereditary cancer syndrome. Most people are unaware because hereditary cancer syndromes often show no other signs or symptoms, beyond a personal or family history of cancer. Genetic testing is the only option available for diagnosing hereditary cancer syndromes.

Hereditary Cancer Panel Menu

Specimen Requirements

Whole Blood preferred (2 EDTA tubes) or Buccal Swab or Extracted DNA (>3 μg from blood, buccal, tissue or fibroblasts)

Turnaround Time

2-4 weeks

Coverage

99% at 50x

Breast Cancer Panel

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

Colorectal Cancer Panel

APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MLH3, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

Endometrial Cancer Panel

BRCA1, BRCA2, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, PTEN, STK11, TP53

Gastric Cancer Panel

APC, BMPR1A, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NF1, PMS2, PTEN, SMAD4, STK11, TP53

Melanoma Panel

BAP1, BRCA2, CDK4, CDKN2A, CHEK2, MC1R, MITF, MUTYH, POT1, PTEN, RB1, SLC45A2, TERT, TP53, TYR

Ovarian Cancer Panel

BARD1, BRCA1, BRCA2, BRIP1, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Pancreatic Cancer Panel

APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDK4, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, TSC1, TSC2, VHL

Prostate Cancer Panel

ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Test Specifics

Innovative Gx Laboratories (IGx) is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory offering next-generation sequencing of coding regions and splice site junctions to detect both sequencing variants and copy number variants. Single-exon deletions or duplications, repeat expansions and deep intronic regions (greater than 20bp from an exon) may not be detected by this test. This test is not designed or validated for the detection of somatic mosaicism. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). Inversion of MSH2 exons 1-7 is assessed in the Colorectal, Endometrial, and Prostate Cancer Panels and by request for other panels. Due to high GC content, copy number variants located in exon 1 of the GALNT12 gene cannot be reliably detected and will not be reported.

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