ASPA Gene Sequencing and Del/Dup
Use
This test detects sequence variants and copy number changes (deletions and duplications) in the ASPA gene, which is associated with Canavan disease, aiding in clinical diagnosis and carrier detection in individuals with suspected pathogenic variants.
Special Instructions
Order requires completion of the Sample Submission (Requisition) Form and Payment Options or Institutional Billing Instructions form; for quantitative deletion/duplication analysis, GeneDx offers CopyDx (qPCR) or MLPA testing and recommends contacting GeneDx in advance regarding feasibility.
Limitations
PCR and sequencing detect most molecular mutations, but deletions or duplications may not be detected by sequencing alone; deletion/duplication analysis methods (CopyDx or MLPA) detect most such variants but may have reduced sensitivity for small events or due to sequence properties; limitations include detection thresholds and need for confirmation.
Methodology
NGS
Biomarkers
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
1–5 mL
Minimum Volume
Not provided
Container
EDTA tube
Collection Instructions
Ship overnight at ambient temperature; use cool pack in hot weather; specimens may be refrigerated for one week prior to shipping.
Storage Instructions
Refrigerate up to one week before shipping; ship ambient temperature with cool pack in hot weather.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 1 week |