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  • Test code: 12001
  • Turnaround time:
    10-21 calendar days (14 days on average)
  • Preferred specimen:
    Saliva or 3ML whole blood in a purple-top tube
  • Alternate specimens:
    gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Cancer Screen

Test description

The Invitae Cancer Screen analyzes more than 60 genes related to inherited cancers that, if detected early, may have effective medical interventions and preventive measures. Conditions tested include breast cancer, ovarian cancer, uterine cancer, colorectal cancer, cutaneous melanoma, gastric cancer, pancreatic cancer, prostate cancer, renal cell cancer, and thyroid cancer.

All genes included in the Cancer Screen can also be found in the Invitae Genetic Health Screen, which includes cardiovascular and cancer genes, as well as additional medically actionable conditions.

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Primary panel (61 genes)

APC ATM AXIN2 BAP1 BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDC73 CDH1 CDK4 CDKN2A CHEK2 DICER1 EPCAM FH FLCN GREM1 HOXB13 KIT MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NTHL1 PALB2 PDGFRA PMS2 POLD1 POLE PRKAR1A PTCH1 PTEN RAD51C RAD51D RB1 RET SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 STK11 TMEM127 TP53 TSC1 TSC2 VHL WT1

Alternative tests to consider

Invitae Genetic Health Screen

  • Breast cancer
  • Ovarian cancer
  • Uterine cancer
  • Colorectal cancer
  • Cutaneous melanoma
  • Gastric cancer
  • Pancreatic cancer
  • Prostate cancer
  • Renal cell cancer
  • Thyroid cancer

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.