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Test Code LABXALDZ X-Linked Adrenoleukodystrophy, Full Gene Analysis

Additional Codes

Test Name in EPIC EPIC Test Code Mnemonic Mayo Test ID


Useful For

Confirming a diagnosis of X-linked adrenoleukodystrophy


Identifying a mutation in the ABCD1 gene

Genetics Test Information

Testing includes full gene sequencing of the ABCD1 gene.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.


See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy in Special Instructions.


For more information, see Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids in Special Instructions.

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

X-ALD, Full Gene Analysis

Specimen Type


Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.


Submit only 1 of the following specimens:



Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 full T-75 flask or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours


Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Type: Blood spot

Supplies: Card - Blood Spot Collection (Filter Paper) (T493)


Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Ahlstrom 226 filter paper or Blood Spot Collection Card (T493)

Specimen Volume: 2 to 5 Blood spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient >1 year of age is finger stick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.

Specimen Minimum Volume

Blood: 1 mL
Blood Spots: 5 punches-3 mm diameter

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

No specimen should be rejected.

Clinical Information

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease characterized by magnetic resonance imaging (MRI) findings in the white matter, adrenocortical insufficiency, and abnormal plasma concentrations of very long chain fatty acids. The phenotypic expression of X-ALD varies widely. The phenotypes can be subdivided into 3 main categories: childhood cerebral form, adrenomyeloneuropathy (AMN), and Addison disease only. The childhood cerebral form has onset of symptoms between ages 4 and 8, beginning with attention deficit hyperactivity disorder-like symptoms with progressive cognitive, behavior, vision, hearing, and motor deterioration. AMN usually presents in males in their late twenties as progressive paraparesis, sexual dysfunction, sphincter disturbances, and abnormalities in adrenocortical function. The Addison only phenotype typically presents by age 7.5 with adrenocortical insufficiency without significant neurological involvement. Most of these patients eventually develop AMN. Some female carriers may experience mild AMN symptoms with a later age of onset.


The phenotype cannot be predicted by very long chain fatty acids (VLCFA) plasma concentration or by the nature of the mutation. The same mutation can be associated with each of the known phenotypes. Different phenotypes often occur within a family.


POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum testing is the preferred first-tier screening method for X-ALD. This is abnormal in 99% of affected males and 85% of carrier females. Sequencing of the ABCD1 gene is available to confirm the diagnosis of X-ALD, improve carrier detection, and assist with prenatal diagnosis.

Reference Values

An interpretive report will be provided.


All detected alterations are evaluated according to American College of Medical Genetics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.


A small percentage of individuals who have a diagnosis of X-linked adrenoleukodystrophy (X-ALD) may have a mutation that is not identified by this method (eg, large deletions/duplications, promoter mutations, deep intronic alterations). The absence of mutations, therefore, does not eliminate the possibility of the diagnosis of X-ALD. For testing asymptomatic individuals it is important to first document the presence of an ABCD1 gene mutation in an affected family member.


In some cases, DNA alterations of undetermined significance may be identified.


Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Method Description

Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the ABCD1 gene.(Unpublished Mayo method)

Day(s) and Time(s) Performed

Performed weekly, Varies

Analytic Time

14 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81405-ABCD1 (ATP-binding cassette, sub-family D [ALD] member 1) (eg, adrenoleukodystrophy) full gene sequence

Fibroblast Culture for Genetic Test

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
XALDZ X-ALD, Full Gene Analysis In Process


Result ID Test Result Name Result LOINC Value
53561 Result Summary 50397-9
53562 Result In Process
53563 Interpretation 69047-9
53564 Additional Information 48767-8
53565 Specimen 31208-2
53566 Source 31208-2
53567 Released By No LOINC Needed


1. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.