Pompe disease is an inborn error of glycogen metabolism due to a deficiency of acid alpha-glucosidase. In the infantile form, clinical symptoms include hypotonia, failure to thrive and progressive hypertrophic cardiomyopathy. The late-onset form can present from childhood through adulthood with progressive muscle weakness and respiratory dysfunction. The physical disability is varied and does not directly correlate with chronological age.
Treatment is available for symptomatic individuals with Pompe disease. Indications for Pompe disease mutation analysis by sequencing include: Individuals with a family history or clinical characteristics of Pompe disease, or individuals who have tested positive for GAA deficiency by enzyme test or newborn screening assays.
Full Sequencing:
83891(1), 83892(2), 83898(19), 83904(19), 83909(19), 83912(1)
Single Exon Sequencing:
83891(1), 83892(1), 83898(1), 83904(2), 83909(2), 83912(1)
Two Exon Sequencing:
83891(1), 83892(2), 83898(2), 83904(4), 83909(4), 83912(1)
Specimen Requirements:
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Blood:
- ACD-A (yellow-top) or EDTA (lavender-top) tubes.
- Adult: 10 ml whole blood.
- Bloodspot:
- Guthrie cards (dried blood spot): Ensure sufficient quantity of blood to soak through to completely fill a minimum of 3 preprinted circles on the paper.
- Prenatal:
- All prenatal specimens (including cord blood) must be accompanied by samples from both parents.
- Discard first 2 ml; then 15 ml amniotic fluid in 15 ml orange-top polypropylene tube or 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or two T-25 flasks of confluent fetal cells.
- Additional sample must be obtained for back-up culture at one of our cytogenetics laboratories or another facility.
- Partial Pompe gene sequencing may be performed on direct chorionic villi samples, but cultures are preferred.
- Full Pompe gene sequencing requires cultured samples.
Turnaround Time:
21 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226