Special Instructions

We offer family variant testing at no additional cost for blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. More closely related relatives should be tested before more distant relatives. Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.

Limitations

This test was developed and its performance characteristics were determined by Ambry Genetics. It has not been cleared or approved by the US Food and Drug Administration. The test is based on whole exome capture with targeted analysis of clinically relevant gene lists. Gross deletion/duplication analysis is assessed for all genes within the targeted exome using a custom pipeline based on coverage and/or breakpoint analysis. CNVs detected by NGS pipeline for which no orthogonal method of confirmation is available will not be included. Variants of uncertain significance, if present, are not routinely reported unless the ordering provider opts-in to VUS reporting.

Biomarkers

Result Turnaround Time

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