|
Test Catalog
|
| Type of Disorder: |
Neuromuscular Disorders |
|
| Typical Presentation: |
Gowers sign, Male child exhibiting toe-walking, muscle wasting |
|
| Disease(s) tested for: |
Duchenne/Becker muscular dystrophy (DMD/BMD) |
|
| Test Details |
|
| Test Code: |
100 |
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
Athena now offers blood tests with virtually 100% accuracy for Duchenne and Becker muscular dystrophies. |
|
| Technical Information |
|
| Utility: |
Determination of quality and quantity of dystrophin protein in muscle tissue |
|
| Methodology: |
Western blot |
|
| Reference Value: |
50-100% of reference |
|
| CPT Code(s): |
88372(2) |
|
| Patents: |
5,541,074, 5,621,091, 5,239,060 |
|
| Shipping Considerations |
|
| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
|
| Preferred Specimen Requirements |
| Type: |
Muscle tissue |
| Minimum Volume: |
10mg |
| Collection Tube: |
Cryovial |
|
| Storage Conditions: |
Freeze immediately in liquid nitrogen; then store at -70? celsius |
|
| Shipping Conditions: |
Ship frozen (10 lbs dry ice). For shipping, use a Muscle Biopsy Collection Container, provided by Athena. |
|
| Test Turnaround: |
4-5 weeks |
|
|
|
