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. Results from CRIM testing will allow for the individualization of treatment regimens for safety and efficacy.
CPT Codes:
88371(1), 88372(1), 84157 (1), 88233(1) for culturing skin biopsy only
Specimen Requirements:
Skin Biopsy
3 mm punch from soft skin obtained by aseptic method. Avoid tough skin areas. Do not use Betadyne or other iodine-containing product as these will reduce cell viability. Place skin biopsy sample in laboratory-provided culture tube with sterile transport medium. For larger samples, place in multiple tubes with transport medium.
Do not add fixative.
Please Note: In the absence of Genzyme tubes, use any sterile screw-top container with tissue culture medium or Hanks Balanced Salt Solution and add antibiotics: Penicillin/Streptomycin (100 IU/ml/100 μg/ml) or Gentamycin (50 μg/ml).
Refrigerate specimen until ready to ship. Seal tube with Parafilm. Use cold pack when shipping. Be sure cold pack is not in direct contact with specimen during transport.
All specimens should be shipped to Genzyme on the day of collection for overnight delivery. Delay in shipping may compromise cell viability and results.
Cultured Fibroblasts
Two T25 flasks grown 2-3 days post-confluence
Fill flasks completely with culture medium and seal with Parafilm.
Turnaround Time:
Skin biopsy: 28 days, Cultured Fibroblasts: 10 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226