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Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion) |
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81234 |
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Blood | Extracted DNA | Cultured Fibroblasts | Muscle | Buccal Cells |
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4 mL, 1 swab, or 200 ng of DNA, 75 mg muscle, 90% cell confluency |
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Blood: Lavender-Top (EDTA) Tube, Buccal Swab from MNG Kit, Tissue or Extracted DNA: Sterile screw capped vial, Cultured cells: T25 flask |
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Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature. |
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Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice |
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Room Temperature: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Refrigerated: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Frozen: Blood - DO NOT FREEZE, Swab - 60 days, DNA - Indefinitely, Muscle - Indefinitely, Fibroblasts - Indefinitely; Freeze/Thaw: None |
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Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection |
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Type 1 myotonic dystrophy results from a mutation in the DMPK gene known as a trinucleotide repeat expansion. This mutation increases the size of the repeated CTG segment in the DMPK gene. People with type 1 myotonic dystrophy have from 50 to 5,000 CTG repeats in most cells. The number of repeats may be even greater in certain types of cells, such as muscle cells. |
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Maximum reportable sizing: 150 repeats. |
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Repeat-Primed PCR (QP-PCR) |
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SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing |
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ZB9AB |
Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
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620084 | DMPK Repeat Expansion | 21757-0 | 620085 | DMPK RE Result | 21757-0 | |
620084 | DMPK Repeat Expansion | 21757-0 | 620086 | DMPK RE Interpretation | N/A |