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

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