Krabbe Disease via the GALC Exons 11-17 (502T/Del)
Use
This test is designed for individuals with a high clinical suspicion of Krabbe disease, particularly for those whose prior genetic testing was negative or detected a single variant associated with an autosomal recessive disease in the GALC gene. It is also suitable for family members of patients who have tested positive for specific deletions, duplications, or inversions associated with Krabbe disease.
Special Instructions
This test is performed at PreventionGenetics, a CAP and CLIA-accredited laboratory. It is important to ensure collection of suitable specimens (Blood, Buccal, Saliva, Tissue) following the provided instructions. For STAT testing, additional charges may apply, and it is vital to coordinate with the laboratory to ensure timely receipt and processing of samples.
Limitations
The test uses targeted PCR to detect specific deletions within the GALC gene, focusing on exons 11-17 with the 502T/Del variant. It may not detect all possible mutations within GALC or mutations in other genes associated with similar phenotypes. Interpretative limitations exist for variants of uncertain significance or if clinical information is insufficient.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided