Consultation with a genetic counselor is advised. Order for fetal testing to detect a previously characterized variant in a family member.
Polymerase Chain Reaction/Sequencing
New York DOH Approval Status
Contact ARUP's genetic counselors 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. Fetal samples tested without a familial positive control may be subject to a disclaimer.
A maternal specimen is recommended for proper fetal test interpretation. Order Maternal Cell Contamination, Maternal Specimen.
Testing will begin upon receipt of all necessary components, including: an original laboratory report detailing the familial variant(s) to be tested, a maternal specimen for maternal cell contamination testing, 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; 81265 Fetal Cell Contamination.
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||59266-7|
|0050612||Maternal Contam Study, Maternal Spec||31208-2|
|2001963||Targeted Sequencing Gene||48018-6|
|2001965||Targeted Sequencing Interpretation||50398-7|
|2001981||SEQ FSM FE Specimen||31208-2|
- Sequencing for familial mutation
- site-specific analysis, familial variant test, known familial variant/mutation, variant-specific DNA