Testing for a previously identified familial sequence variant by sequencing the gene of interest. A copy of the family member’s test result documenting the familial gene variant is REQUIRED. Not all genes/variants are covered by this assay; see the attached Targeted Sequencing Gene List within Supplemental Resources for genes and regions available for this test.
Consultation with a genetic counselor is advised to determine if the variant of interest is detectable with this assay and if there are gene-specific technical considerations; please call 800-242-2787 ext. 2141. Testing will not proceed if the requested variant or gene is not covered. The common variants CFTR F508del and 5T (IVS8) are not tested by this assay. Only the requested sequence variant of interest and other incidentally detected pathogenic or likely pathogenic sequence variants related to the condition in the gene of interest will be reported.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.
Transport 2 mL whole blood. (Min: 1 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Documentation of the familial gene variant from a relative's laboratory test report is required to perform testing. Testing will begin upon receipt of all necessary components, including an original laboratory report detailing the familial variant(s) to be tested.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Refer to report
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online
Laboratory Developed Test (LDT)
Documentation of the familial gene variant from a relative's laboratory test report is required to perform testing.
Testing will begin upon receipt of all necessary components, including an original laboratory report detailing the familial variant(s) to be tested.
|Component Test Code*||Component Chart Name||LOINC|
- familial variant test
- known familial variant/mutation
- Sequencing for family mutation
- site-specific analysis
- variant-specific DNA