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Adrenoleukodystrophy, X-Linked (ABCD1) Deletion/Duplication
2011880
Ordering Recommendation

Useful when ABCD1 sequencing does not identify a causative variant in individuals with clinical and/or biochemical presentation of X-linked adrenoleukodystrophy or when a familial ABCD1 deletion/duplication is known.

Mnemonic
ABCD1 DD
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report  
Interpretive Data
Refer to Report

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

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)
81479
Components
Component Test Code*Component Chart NameLOINC
2011881ABCD1 DelDup Specimen31208-2
2011882ABCD1 DelDup Interpretation53836-3
* 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
  • ADL
  • Adrenomyeloneuropathy
  • AMN
  • X-ALD
  • X-Linked adrenoleukodystrophy