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HelpTest Code XALDZ X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies
Reporting Name
X-ALD, Full Gene AnalysisPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Confirming a diagnosis of X-linked adrenoleukodystrophy
Identifying a mutation in the ABCD1 gene
Method Name
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing
Specimen Type
VariesShipping 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 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 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)
Container/Tube:
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, see Blood Spot Collection Instructions in Special Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
3. 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 | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Interpretation
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.
Day(s) and Time(s) Performed
Performed weekly, Varies
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 | 82939-0 |
| 53563 | Interpretation | 69047-9 |
| 53564 | Additional Information | 48767-8 |
| 53565 | Specimen | 31208-2 |
| 53566 | Source | 31208-2 |
| 53567 | Released By | 18771-6 |
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.
Special Instructions
- Molecular Genetics: Biochemical Disorders Patient Information
- Informed Consent for Genetic Testing
- Blood Spot Collection Card-Spanish Instructions
- Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
- 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 in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.