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  • Test code: 11001
  • 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 Genetic Health Screen

Test description

The Invitae Genetic Health Screen analyzes more than 145 genes related to inherited cancers, cardiovascular conditions, and additional conditions that, if detected early, may have effective medical interventions and preventive measures. The Invitae Genetic Health Screen is our most comprehensive proactive health test, including all the genes analyzed in the Invitae Cancer Screen and Invitae Cardio Screen, as well as several more associated with medically actionable conditions.

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Primary panel (147 genes)

ACTA2 ACTC1 ACTN2 ACVRL1 APC APOB ATM ATP7B AXIN2 BAG3 BAP1 BARD1 BMPR1A BMPR2 BRCA1 BRCA2 BRIP1 CACNA1C CACNA1S CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV1 CAV3 CDC73 CDH1 CDK4 CDKN2A CHEK2 COL3A1 CRYAB CSRP3 DES DICER1 DMD DSC2 DSG2 DSP EMD ENG EPCAM F2 F5 F9 FBN1 FH FHL1 FLCN FLNC GDF2 GLA GPD1L GREM1 HAMP HCN4 HFE HJV HOXB13 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 KIT LAMP2 LDLR LDLRAP1 LMNA MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH MYBPC3 MYH11 MYH7 MYL2 MYL3 MYLK NBN NF1 NF2 NKX2-5 NTHL1 OTC PALB2 PCSK9 PDGFRA PKP2 PLN PMS2 POLD1 POLE PRKAG2 PRKAR1A PRKG1 PROC PROS1 PTCH1 PTEN RAD51C RAD51D RB1 RBM20 RET RYR1 RYR2 SCN5A SDHA SDHAF2 SDHB SDHC SDHD SERPINA1 SERPINC1 SGCD SLC40A1 SMAD3 SMAD4 SMARCA4 SMARCB1 STK11 TCAP TFR2 TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM127 TMEM43 TNNC1 TNNI3 TNNT2 TP53 TPM1 TSC1 TSC2 VCL VHL WT1

Alternative tests to consider

  • Breast cancer
  • Ovarian cancer
  • Uterine cancer
  • Colorectal cancer
  • Cutaneous melanoma
  • Gastric cancer
  • Pancreatic cancer
  • Prostate cancer
  • Renal cell cancer
  • Thyroid cancer
  • Aortopathies
  • Arrhythmias
  • Cardiomyopathies
  • Thrombophilia
  • Genetic forms of high blood pressure and high cholesterol
  • Malignant hyperthermia susceptibility
  • Hereditary hemochromatosis
  • Alpha-1 antitrypsin 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.