Ordering Recommendation

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.

Mnemonic
ABCD1 FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Sun-Sat

Reported

14-21 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval
Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81405

Components
Component Test Code* Component Chart Name LOINC
2011903 ABCD1 Sequencing Specimen 31208-2
2011904 ABCD1 Sequencing Interpretation 53836-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • ABCD1
  • Adrenomyeloneuropathy
  • ALD
  • AMN
  • X-ALD
  • X-Linked adrenoleukodystrophy
Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing