Recommended test for a known familial sequence variant previously identified in a family member. A copy of the family member’s test result documenting the familial variant is required. Consultation with a genetic counselor is advised.
Polymerase Chain Reaction/Sequencing
New York DOH Approval Status
Contact ARUP's genetic counselor at (800) 242-2787 extension 2141 prior to test submission for specimen requirements and submission information.
Documentation of the familial gene variants(s) is required to perform targeted sequencing. Submit a copy of a relative's laboratory test report documenting the gene and specific variants(s) for which testing is requested.
Submit a positive control with the patient specimen for appropriate interpretation, order Sequencing Control (test code 0051650). Samples tested without a familial positive control may be subject to a disclaimer.
Testing will begin upon receipt of all necessary components, including an original laboratory report detailing the familial variant(s) to be tested and a familial positive control sample.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US 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)
Varies by gene
|Component Test Code*||Component Chart Name||LOINC|
|2001962||SEQ FSM Specimen||31208-2|
|2001963||Targeted Sequencing Gene||48018-6|
|2001965||Targeted Sequencing Interpretation||50398-7|
- Sequencing for familial mutation
- site-specific analysis, familial variant test, known familial variant/mutation, variant-specific DNA