Hereditary Cancer Targeted Mosaic Variant Test

Conditions

  • Carrier/Variant-Specific Testing
  • Carrier/Variant-Specific Testing - Nuclear Variants

Clinical Utility

To identify potentially low level constitutional mosaicism for a specific variant of interest in the following situations:
  • When mosaicism is identified or suspected based on prior genetic testing done on a blood, buccal, or oral rinse specimen (testing a different tissue type is recommended)
  • A variant identified on a prior somatic tumor panel to assess whether the variant occurs at a lower allele fraction
  • Testing parent(s) to clarify future reproductive risks when a variant was identified in a child
  • CLIA confirmation of suspected mosaic findings identified by a research study

Lab Method

  • Next-Gen Sequencing

Important Information

GeneDx offers targeted testing to evaluate for potentially low level mosaicism for a familial variant previously identified in an individual or in a relative. The Hereditary Cancer Mosaic Variant Test could be considered in the following scenarios:

  • When mosaicism is identified or suspected based on prior genetic test results (hereditary or somatic) (testing a different tissue type is recommended)
  • Testing parent(s) to clarify future reproductive risks when a variant was identified in a child
  • CLIA confirmation of suspected mosaic findings identified by a research study

Mosaic variant analysis is available for most genes on the GeneDx testing menu. In many cases, mosaic variant analysis is also available for individuals who had variants identified by testing at an outside laboratory or as part of a research study. At this time, mosaic variant analysis is not available for copy number variants (CNVs). Additionally, there are some genes or portions of genes are not amenable to mosaic variant analysis for sequencing variants. If prior trio testing was performed including the patient and both parents as part of exome or genome sequencing, an Xpanded panel, or another testing scenario, please contact GeneDx in advance of sample submission to discuss the utility of mosaic variant analysis.   GeneDx can isolate DNA directly from skin punch biopsies or from cultured fibroblasts, which is indicated when blood/buccal/oral rinse are not appropriate specimen types due to a patient’s personal history of Bone Marrow Transplant (BMT) or certain hematologic conditions. For more information regarding Skin Punch Biopsy Collection, and to learn about Specimen Considerations for Individuals with Hematologic Diseases, please visit the Specimen Requirements Page.

Insurance billing not accepted

Test Code

TB54

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

For Specimen Options, Please call 1-888-729-1206 (301-519-2100)

Alternative Specimen

For Specimen Options, Please call 1-888-729-1206 (301-519-2100)

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

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