Gaucher Disease
About the Disease | Signs / Symptoms | Diagnosis | Treatment | Sample Requirements l Results and Turnaround Time l Shipping l CPT Codes
About the Disease
Gaucher Disease is also known as Glucocerebrosidase deficiency, acid beta-glucosidase deficiency or glucosylceramidase deficiency.
Are there different types? How do the types differ?
Non-neuronopathic Gaucher disease, or Gaucher disease Type 1 describes Gaucher disease that does not involve the brain or central nervous system. Symptoms can begin in infancy, childhood, or adulthood. Signs and symptoms can range from very severe to so mild that an individual may not realize they have the disease.
Neuronopathic Gaucher disease, or Gaucher disease Types 2 and 3, includes the variants of Gaucher disease that affect both the body and brain. Type 2 disease (acute) usually begins early in infancy, progresses quickly, and usually results in death by 2-3 years of age. Type 3 disease (chronic) usually causes symptoms in later infancy or childhood and has a slower progression with prolonged survival.
How common is Gaucher disease?
Gaucher disease is the most common lysosomal storage disease. It is estimated that about 1 in 40,000 to 1 in 60,000 people are affected with Gaucher disease worldwide. Gaucher disease occurs more frequently in the Ashkenazi Jewish population at a rate of 1 in 450 to 1 in 1000. Types 2 and 3 diseases occur in all populations at a rate of about 1 in 100,000.
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What are the symptoms of Gaucher Disease?
Gaucher disease is caused by decreased activity of an enzyme called acid β-glucosidase. This enzyme is supposed to break down fats that the body has made. When these fats cannot be broken down, they are stored in the lysosomes of cells called macrophages. Disease symptoms and signs are caused by this storage and chemicals that are released from the stored cells.
Organs that have lots of macrophages are most affected, such as the spleen, liver, and bone marrow. Other affected organs include the lymphatic system, lungs, skin, eyes, kidneys, heart, and nervous system. The most common signs and symptoms of Gaucher disease type 1 are hepatosplenomegaly, anemia, thrombocytopenia and skeletal manifestations, such as bone pain, Erlenmeyer flask deformity and avascular necrosis.
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How is Gaucher Disease Diagnosed?
Gaucher disease is suspected when someone has an enlarged liver and spleen and / or low platelets or hemoglobin. If a physician performs a bone marrow or liver biopsy very large Gaucher cells may be seen.
The disease must be confirmed by measuring decreased enzyme activity in white blood cells or other tissues. This can be done by obtaining a blood sample and sending it to a special laboratory that measures the enzyme activity. The enzyme is not normally present in the liquid part of the blood, termed plasma or serum.
Gaucher disease can also be diagnosed by identifying two mutant alleles in the GBA gene. This can be done by obtaining DNA from a blood sample or skin biopsy. Four mutations are very common in the Ashkenazi Jewish population. These mutations can be seen in people who are not of Ashkenazi Jewish ancestry, but not as often. If you are not Ashkenazi Jewish, it may be necessary to sequence the entire gene in order to identify genetic changes in the GBA 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. 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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Blood Sample Packaging and Shipping Instructions
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., NRB 1042
Cincinnati, OH 45229
513-636-4474
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CPT Codes
Please call 866-450-4198 for current pricing.
| Test |
CPT Code |
| GBA Full Gene Sequencing |
83890, 83898 (x8), 83894 (x8), 83891 (x8), 83904 (x24), 83912 |
| Beta Glucosidase Family Genotyping |
83890, 83898, 83894, 83891, 83904, 83912 |
| Ashkenazi Panel |
83890, 83898, 83894, 83891, 83904 (x8), 83912 |
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