Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion
Use
This test is intended for individuals with a high clinical suspicion of glycogen storage disease type II (Pompe Disease) caused by mutations in the GAA gene, particularly those who have had negative prior genetic tests or detected a single variant. It is also useful for family members of patients who have tested positive for this specific gene deletion.
Special Instructions
The test involves amplification of patient and control DNA using specific PCR primers that flank or lie within the region of interest. In some cases, Sanger sequencing of the PCR product is used to assess breakpoints. Clinical sensitivity and specificity are greater than 99% for detecting the deletion. Insurance, institutional, or self-pay billing options are available.
Limitations
The test is designed specifically to detect certain deletions, duplications, and inversions within the GAA gene and may not identify other sequence variants or structural events. It is optimized for germline variants, with limited capability for somatic or mosaic variant detection. Allele dropout may occur if a private variant exists at the primer binding site, potentially leading to a false negative result.
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