High-quality testing

Assay coverage

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory, offering panel and single gene genetic tests as well as exome analysis.

Panels and genes

Invitae's assay for panel and single gene tests includes both full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

  • Full-gene sequencing: Covers clinically important regions of each gene, including coding exons, +/-10 base pairs of adjacent intronic sequence, and select noncoding variants. For some genes, analysis may extend to the promoter region, include additional intronic variants, or be limited to targeted variants or exons. To find details, search for a specific gene or test.
  • Deletion/duplication analysis: Detects intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality.
  • Coverage: Provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis).
  • Confirmation: Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and were previously validated in at least 10 unrelated samples.

Download our High-quality genetic testing, simplified flyer to learn more about Invitae's commitment to delivering high-quality, affordable testing.

Exome

Invitae's boosted exome analysis utilizes advanced next-generation sequencing (NGS) capture technology with boosted coverage of medically relevant genes. Customized capture baits enhance the coverage of hard-to-sequence areas of the exome and allow detection of intragenic copy number variants.

To learn more about Invitae's exome analysis, please refer to the Technical description section of the Exome page.

Informing medical care with genetic insights

Our team of genetic counselors, medical geneticists, and scientists works together to provide you with a curated genetic testing menu and clinically relevant test results.

  • Invitae's team of scientists extensively reviews the literature and public database entries for each gene.
  • Genetic disorders associated with each gene are analyzed, including disease penetrance, inheritance, and known pathogenic variants.
  • Each gene's molecular characteristics are defined, including known isoforms, detailed gene structures, and challenging regions to assay.
  • After review, genes are organized into panels that help you order a genetic test that matches your patient's clinical presentation.
  • During report signout, our clinical team follows the American College of Medical Genetics (ACMG) guidelines for variant classification.

Learn more about Invitae's commitment to quality

A new gold standard

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Validation studies

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Variant classification

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