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

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: 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

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; 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
* 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 and Deletion/Duplication