X‑linked Adrenoleukodystrophy (ABCD1) gene sequencing & deletion/duplication
Use
This test provides comprehensive molecular analysis of the ABCD1 gene to aid in the diagnosis of X‑linked adrenoleukodystrophy (XALD), including its spectrum of phenotypes such as cerebral adrenoleukodystrophy, adrenomyeloneuropathy, and primary adrenal insufficiency. It is intended for patients with clinical suspicion of XALD or with family history of ABCD1 variants.
Special Instructions
Not provided.
Limitations
This assay uses bi‑directional sequencing of ABCD1 coding regions (exons 1–10) and splice sites, plus MLPA for most exon deletion/duplication detection, but excludes exon 9 from the deletion/duplication analysis. Certain regions may not be evaluable due to homology or sequence complexity. Balanced rearrangements, mosaicism, low‑level variants, and some large insertions, inversions, or deeply intronic variants may be missed.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
1–5 mL whole blood in EDTA
Minimum Volume
Not provided
Container
EDTA tube
Collection Instructions
Ship overnight at ambient temperature; use cool pack in hot weather
Storage Instructions
Specimens may be refrigerated up to one week prior to shipping
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