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MSH6/MUTYH/EPCAM Del/Dup Testing by MLPA
MSH6/MUTYH/EPCAM Del/Dup Testing by MLPA
MSH6/MUTYH/EPCAM Del/Dup Testing by MLPA
This assay detects copy number changes in the MSH6, MUTYH, and EPCAM genes and the two common point mutations in MUTYH, which are associated with Lynch syndrome or MUTYH-associated polyposis (MAP).
| Test Code | D5233 |
|---|---|
| Test Summary |
This assay detects copy number changes in the MSH6, MUTYH, and EPCAM genes and the two common point mutations in MUTYH, which are associated with Lynch syndrome or MUTYH-associated polyposis (MAP). |
| Turn Around Time | 12 days |
| Acceptable Sample Types | DNA, Isolated , Dried Blood Spots , Saliva , Whole Blood (EDTA) |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | No |
| CPT Codes** | 81300(x1), 81403(x1), 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) detects the deletion and duplication 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, thus specific for the sequence of interest. This test includes copy number analysis of the MSH6, MUTYH, and EPCAM genes and two common MUTYH mutations, c.536A>G (p.Tyr179Cys) and c.1187G>A (p.Gly396Asp).
Condition description
Lynch syndrome (LS, MIM# 120435; formerly known as HNPCC, Hereditary Nonpolyposis Colorectal Cancer) is the most common heritable colorectal carcinoma (CRC) syndrome and is responsible for 2% to 4% of all CRC cases in the Western world. Heterozygous germline mutations in one of the mismatch repair (MMR) genes MSH2 (MIM# 609309), MLH1 (MIM# 120436), MSH6 (MIM# 600678), or PMS2 (MIM# 600259) are responsible for Lynch syndrome (PMID: 20301390). Another cause of Lynch syndrome is the deletion of the 3’ part of EPCAM, leading to constitutional epigenetic silencing of the downstream MSH2 gene. The estimated contribution of the different genes to Lynch syndrome is 15-40% for MLH1, 20-40% for MSH2, 12-35% for MSH6, 5-25% for PMS2 and <10% for EPCAM (PMID: 20301390).
Mutations in the MUTYH gene also result in a hereditary predisposition to colon and gastric cancer, referred to as MUTYH-associated polyposis (MAP). In contrast to LS, MAP is an autosomal recessive disorder. In MAP patients, ten to several hundred colonic adenomatous polyps develop, and in adulthood, these become evident at a mean age of 50. However, colon cancer can also develop in the absence of polyposis. A single defective copy of the MUTYH gene may result in no risk or only a slight increase in risk for CRC. Phenotypes of Lynch (like) syndrome and MAP can partly overlap. There are two common MUTYH mutations, c.536A>G (p.Tyr179Cys) and c.1187G>A (p.Gly396Asp), which are found in ~70% of all MAP patients of European descent. These hotspot mutations are less prevalent in other populations, such as Eastern Asia.
Genes
Test methods and limitations
MLPA-based assay for detecting deletions/duplications in the MSH6, MUTYH, and EPCAM genes. The MRC-Holland reagent kits and the Applied Biosystem 3730xl DNA Analyzer instrument generate fragment analysis data.
Detailed sample requirements
DNA, Isolated
| Collection |
Required DNA Quantity by Test Type*:
|
|---|---|
| Sample Condition |
* Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met. |
| Shipping |
Ship overnight at ambient temperature. |
| SPECIAL SAMPLE INSTRUCTIONS |
|
Whole Blood (EDTA) (Preferred Sample)
| 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. |
Saliva
| Collection Container(s) |
Oragene™ Saliva Collection Kit or ORAcollect-Dx kit |
|---|---|
| Collection |
Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer's instructions. |
| Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
| Shipping |
Ship overnight at ambient temperature. |
| SPECIAL SAMPLE INSTRUCTIONS |
Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample. Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information. |
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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