Orders for this test for patients residing in New York state cannot be accepted at this time.
| Test code: | 110 |
| Type of disorder: | Neuromuscular Disorders |
| Disease(s) tested for: | Myotonic Dystrophy, Type 2 |
| Genes Included: |
CNBP, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Patents: | 6,902,896 7,442,782 |
| Clinical Significance: | Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) gene
Typical Presentation: Individuals with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia |
| Methodology: |
Repeat Expansion Detection by PCR, Long Read Sequencing
|
| Reference Range: | Normal: Less than 177 base pairs |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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