Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication
2011906
Ordering Recommendation
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.
Mnemonic
ABCD1 FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Sun-Sat
Reported
21-28 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
- 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
Reference Interval
Interpretive Data
Refer to Report
Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Note
CPT Code(s)
81405; 81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2011907 | ABCD1 Seq, Del Dup Specimen | 31208-2 |
| 2011908 | ABCD1 Seq, Del/Dup Interp | 53836-3 |
Aliases
- ABCD1
- Adrenomyeloneuropathy
- ALD
- AMN
- X-ALD
- X-Linked Adrenoleukodystrophy