Test Id : XALDZ
X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Confirming a diagnosis of X-linked adrenoleukodystrophy
Identifying a variant in the ABCD1 gene
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Testing includes full gene sequencing of the ABCD1 gene.
Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.
| Test Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
For more information see Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy.
If the patient has abnormal newborn screening results for X-linked adrenoleukodystrophy, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)
Method Name
A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) followed by DNA Sequencing
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
ABCD1
Adrenomyeloneuropathy
XALDS
Peroxisome
Peroxisomal
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
For more information see Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy.
If the patient has abnormal newborn screening results for X-linked adrenoleukodystrophy, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)
Specimen Type
Describes the specimen type validated for testing
Varies
Ordering Guidance
The preferred first-tier screening test for X-linked adrenoleukodystrophy is POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Whole blood
Container/Tube:
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 whole blood specimen in original tube. Do not aliquot.
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
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Supplies: Fibroblast Biopsy Transport Media (T115)
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.).
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Blood spot
Supplies: Card - Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper, or blood spot collection card
Specimen Volume: 2 to 5 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
4. Do not stack wet specimens.
5. Keep specimen dry.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. Due to lower concentration of DNA yielded from blood spot, it is possible that additional specimen may be required to complete testing.
2. For collection instructions, see Blood Spot Collection Instructions.
3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).
4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).
Special Instructions
Library of PDFs including pertinent information and forms related to the test
- Molecular Genetics: Biochemical Disorders Patient Information
- Informed Consent for Genetic Testing
- Blood Spot Collection Card-Spanish Instructions
- Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Blood Spot Collection Instructions
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Blood: 1 mL
Blood Spots: 5 punches-3 mm diameter
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Confirming a diagnosis of X-linked adrenoleukodystrophy
Identifying a variant in the ABCD1 gene
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Testing includes full gene sequencing of the ABCD1 gene.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
For more information see Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy.
If the patient has abnormal newborn screening results for X-linked adrenoleukodystrophy, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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 genetic variant. The same variant 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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(2) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
A small percentage of individuals who have a diagnosis of X-linked adrenoleukodystrophy (X-ALD) may have a variant that is not identified by this method (eg, large deletions/duplications, promoter alterations, deep intronic alterations). The absence of variants, 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 variant in an affected family member.
In some cases, DNA alterations of undetermined significance may be identified.
Rare alterations 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.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Newborn Screening ACT Sheet [Elevated Lysophosphatidylcholine] X-Linked Adrenoleukodystrophy (X-ALD). American College of Medical Genetics and Genomics; 2023. Revised November 2023. Accessed March 25, 2025. Available at www.acmg.net/PDFLibrary/X-ALD-ACT-Sheet.pdf
2. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
3. Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007;3(3):140-151
4. Wang Y, Busin R, Reeves C, et al. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Mol Genet Metab. 2011;104(1-2):160-166
5. Kemp S, Berger J, Aubourg P: X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta. 2012;1822(9):1465-1474
Method Description
Describes how the test is performed and provides a method-specific reference
Bidirectional sequence analysis is performed to test for the presence of a variant in all coding regions and intron/exon boundaries of the ABCD1 gene.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Varies
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81405-ABCD1 (ATP-binding cassette, sub-family D [ALD] member 1) (eg, adrenoleukodystrophy) full gene sequence
88233-Tissue culture, skin or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| XALDZ | X-ALD, Full Gene Analysis | 95782-9 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 53561 | Result Summary | 50397-9 |
| 53562 | Result | 82939-0 |
| 53563 | Interpretation | 69047-9 |
| 53564 | Additional Information | 48767-8 |
| 53565 | Specimen | 31208-2 |
| 53566 | Source | 31208-2 |
| 53567 | Released By | 18771-6 |