Pompe Disease
About the Disease | Signs / Symptoms | Sample Requirements l Results and Turnaround Time l Shipping l CPT Codes
About the Disease
Pompe Disease is also known as glycogen storage disease type II (GSD-II) or acid maltase deficiency (AMD).
Are there different types of Pompe disease? How do the types differ?
Most sources say there are two types of Pompe disease: infantile-onset and late-onset. In the infantile-onset form of Pompe disease, the fist symptoms can occur in the first weeks of life. In the late-onset form, the first symptoms occur in childhood or early adulthood.
What causes someone to have Pompe disease?
Pompe disease is a disorder caused by having absent or deficient acid alpha-glucosidase (GAA). GAA is responsible for breaking down glycogen in the lysosomes of cells. Once the glycogen is broken down, it can be used by the body. In Pompe disease, an affected individual has no or very little GAA, causing glycogen to build up in the lysosome. With time, more and more glycogen builds up in the lysosomes in various body tissues. The progressive build-up of glycogen causes the symptoms we see in Pompe disease.
How common is Pompe disease?
A 1999 study reported that about 1 in every 140,000 newborns will have infantile onset Pompe disease. The late-onset form of Pompe disease is more common, with 1 in every 60,000 people affected. There may be as many as 5000-10,000 people living with Pompe disease worldwide.
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What are the signs and symptoms of Pompe disease?
Newborns with Infantile Pompe disease often do not show signs of the condition. Within the first months of life, parents may notice feeding problems, irritability, poor head control, and a protruding tongue. The child may also have hypotonia and absent reflexes, respiratory distress and/or hepatomegaly. A chest X-ray, echocardiogram, or electrocardiogram may show an enlarged heart consistent with hypertrophic cardiomyopathy. The disease is progressive and usually fatal in the first year of life.
A person with late-onset Pompe disease does not show symptoms of the condition at birth. As children, individuals with late-onset Pompe disease may seem clumsy, have decreased stamina, or have difficulty performing certain activities, such as sit-ups. The disease is often not diagnosed, however, until individuals have more severe symptoms including lower extremity and truncal muscle weakness, resulting in decreased ambulation, shortness of breath, scoliosis, and back pain.
How is infantile-onset Pompe disease diagnosed?
A doctor may suspect Pompe disease in a baby who has severe hypotonia, feeding problems, or respiratory insufficiency. An echocardiogram, chest X-ray, or electrocardiogram may show an enlarged heart. A muscle biopsy may detect increased glycogen in the muscle cells.
Pompe disease can be confirmed by documenting absent or deficient acid alpha-glucosidase (GAA) in skin fibroblasts or by documenting the presence of two mutations in the GAA gene.
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Sample Requirements
Blood samples should be collected in EDTA (lavender topped) tubes. A minimum of 5cc on adult or 3cc on child is required for analysis. Blood collected on Friday may be stored in refrigerator until Monday for overnight shipment. For other tissue requirements please call 1-800-344-2462, extension 4474.
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Results and Turnaround Time
Reports are routinely available within 3 weeks of sample receipt. Sequencing for Infantile Pompe disease will be completed in 1-2 weeks. Please note that the charge for Infantile Pompe disease sequencing is greater than the charge for general sequencing. Abnormal results will be called to the referring physician. Reports will be faxed to the referring physician and followed up with a mailed original.
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Shipping
Blood samples must be sent to the laboratory by overnight courier (Federal Express). DO NOT SHIP SAMPLES ON A FRIDAY.
All samples must be clearly labeled with the patient's name and birth date and should be initialed by the phlebotomist to attest to the patient's identity on the label.
- Please enclose the appropriate test requisition with sample. All information must be completed before sample can be processed.
- All samples must be clearly labeled with the patient's name and birth date and initialed by the phlebotomist.
- All samples should be wrapped, cushioned against breakage and sealed in a plastic bag before placement in the shipping container.
- All samples should be sent at room temperature.
- Do not allow to freeze.
- Samples should be sent by overnight carrier to arrive Monday through Friday.
- Keep a copy of requisition form for your records.
Ship Samples To
Molecular Genetics Laboratory
Cincinnati Children's Hospital Medical Center
3333 Burnet Ave., R-1005
Cincinnati, OH 45229
513-636-4474
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CPT Codes
Please call 866-450-4198 for current pricing.
| Test | CPT Code |
|---|
| Infantile Pompe Full Gene (GAA) Sequencing |
83890, 83898 (x17), 83894 (x17), 83891 (x17), 83904 (x34), 83909 (x34), 83912 |
| Pompe Full Gene (GAA) Sequencing |
83890, 83898 (x17), 83894 (x17), 83891 (x17), 83904 (x34), 83909 (x34), 83912 |
| Pompe Family Mutation Studies |
83890, 83898, 83894, 83891, 83904, 83912 |
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