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.
- Patient Preparation
- Collect
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature
- Refrigerated.
- Unacceptable Conditions
- Remarks
- Stability
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2011907 | ABCD1 Seq, Del Dup Specimen | 31208-2 |
2011908 | ABCD1 Seq, Del/Dup Interp | 53836-3 |
- ABCD1
- Adrenomyeloneuropathy
- ALD
- AMN
- X-ALD
- X-Linked Adrenoleukodystrophy