Preferred test to confirm diagnosis of X-linked adrenoleukodystrophy following abnormal results from very long-chain and branched-chain fatty acids profile test or to determine carrier status in females when familial variant is unknown. Detects most pathogenic variants.
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 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|
|2011907||ABCD1 Seq, Del Dup Specimen||31208-2|
|2011908||ABCD1 Seq, Del/Dup Interp||53836-3|
- X-Linked Adrenoleukodystrophy