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ABCD1 DNA Sequencing Test - Athena #6108
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
ABCD1 DNA(ATH#6108)
Alias/See Also
Adrenoleukodystrophy
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Adrenal, Leukodystrophy
Typical presentation: Initially, the childhood cerebral form resembles attention deficit disorder and progresses to impairment of cognition, behavior, and motor function. The adrenomyeloneuropathy phenotype presents with progressive paraparesis, sexual dysfunction, and impaired adrenocortical function.
Indications for testing: Primary adrenal insufficiency in boys
Disease(s) tested for: X-linked Adrenoleukodystrophy
Utility: Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of ABCD1
Typical presentation: Initially, the childhood cerebral form resembles attention deficit disorder and progresses to impairment of cognition, behavior, and motor function. The adrenomyeloneuropathy phenotype presents with progressive paraparesis, sexual dysfunction, and impaired adrenocortical function.
Indications for testing: Primary adrenal insufficiency in boys
Disease(s) tested for: X-linked Adrenoleukodystrophy
Utility: Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of ABCD1
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
