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GBA Gene Del/Dup Testing by MLPA
GBA Gene Del/Dup Testing by MLPA
GBA Gene Del/Dup Testing by MLPA
This test analyzes the GBA gene for deletions and duplications by MLPA.
| Test Code | D5032D |
|---|---|
| Test Summary |
This test analyzes the GBA gene for deletions and duplications by MLPA. |
| Turn Around Time | 3 - 5 weeks |
| Acceptable Sample Types | Dried Blood Spots , Whole Blood (EDTA) |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | Yes |
| CPT Codes** | 81479(x1) |
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
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Test information
Test description
Multiplex Ligation-Dependent Probe Amplification (MLPA) enables the detection of deletion and duplications of single and multiple exons within a given gene (PMID: 20938835). It is a semi-quantitative technique to determine relative copy number using a multiplex PCR-based reaction. Only hybridized and ligated adjacent probe oligonucleotides are amplified by PCR, and thus are specific for the sequence of interest. This test involves copy number analysis of GBA gene. Reciprocal exchanges between GBA and its pseudogene will be missed in this test. This assay should be used in conjunction with sequence analysis.
Condition description
Gaucher disease is associated with accumulation of harmful lipids throughout the body. There are 5 types of Gaucher disease. Type 1 Gaucher disease is the most common form, with a variable age of onset and symptom severity. Symptoms typically include hepatosplenomegaly, anemia, easy bruising, lung disease, and bone abnormalities. Type 2 and Type 3 Gaucher disease both affect the central nervous system and symptoms typically include the symptoms of Type 1 Gaucher disease plus abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease typically onsets in infancy and rapidly progresses, while Type 3 Gaucher disease typically progresses slower. The perinatal lethal form of Gaucher disease has symptom onset during pregnancy or in early infancy. Symptoms include hydrops fetalis, ichthyosis, skin abnormalities, hepatosplenomegaly, distinct facial features, and severe neurological problems. Death usually occurs a few days after birth. The cardiovascular form of Gaucher disease typically show symptoms of calcified heart valves, eye abnormalities, bone disease, and splenomegaly. The incidence of Gaucher disease is estimated to be ~ 1 in 50,000.
Genes
Test methods and limitations
This is a MLPA based assay for the detection of large deletions/duplications and some frequent point mutations in the GBA gene. The MRC-Holland reagent kits and the Applied Biosystem 3730xl DNA Analyzer instrument are used to generate fragment analysis data.
Detailed sample requirements
Whole Blood (EDTA)
| Collection Container(s) |
EDTA (purple top) |
|---|---|
| Collection |
Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation. |
| Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
| Shipping |
Ship overnight at ambient temperature ensuring receipt within 5-days of collection. |
| SPECIAL SAMPLE INSTRUCTIONS |
Clotted or hemolyzed samples are not accepted. |
Dried Blood Spots
| Collection Container(s) |
Dried blood spot card |
|---|---|
| Collection |
Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
|
| Sample Condition |
Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer. |
| Shipping |
Follow kit instructions. Double bag and ship overnight at ambient temperature. |
Resources
How To Order
Choose Your Test
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Collect Sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send Samples
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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