Useful to confirm diagnosis or carrier status for X-linked adrenoleukodystrophy. Detects most pathogenic variants. Sequencing does not detect deletions and duplications; contact an ARUP Genetic Counselor to order ABCD1 deletion/duplication testing, available upon request.
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; 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 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)
|Component Test Code*||Component Chart Name||LOINC|
|2011903||ABCD1 Sequencing Specimen||31208-2|
|2011904||ABCD1 Sequencing Interpretation||53836-3|
- X-Linked adrenoleukodystrophy