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Test Catalog
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Adults may present with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia, infants may present with severe hypotonia, skeletal deformities, developmental delay and mental retardation |
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| Disease(s) tested for: |
Myotonic dystrophy, Type 1 |
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| Test Details |
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| Test Code: |
108 |
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| Profiles that contain this test: |
Complete Myotonia Evaluation, Complete Myotonic Dystrophy Evaluation, Early Onset Myotonia Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Complete Myotonic Dystrophy Evaluation, #126. Prenatal testing is available. |
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| Technical Information |
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| Utility: |
Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene |
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| Methodology: |
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot |
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| Reference Value: |
Normal: 5-37 CTG trinucleotide repeats |
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| Patents: |
5,955,265, 5,977,333 |
| CPT Coding |
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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.
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| Stacked CPT Code(s): |
83891(1), 83898(1), 83909(1), 83912(1) |
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| Tiered CPT Code(s): |
81401 |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Room temperature, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
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| Test Turnaround: |
14-21 days |
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