|
Test Catalog
|
| Type of Disorder: |
Neuromuscular Disorders |
|
| Typical Presentation: |
Slowly progressive asymmetric wasting of muscles of the face, shoulder and upper arms |
|
| Disease(s) tested for: |
Facioscalpulohumeral muscular dystrophy (FSHD) |
|
| Test Details |
|
| Test Code: |
405 |
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
N/A |
|
| Technical Information |
|
| Utility: |
Detects deletions on chromosome 4q35 associated with FSHD |
|
| Methodology: |
Pulsed Field Gel Electrophoresis and Southern blot |
|
| Reference Value: |
Normal: restriction fragment length 41 and 330 kb |
|
| CPT Code(s): |
83891(1), 83892(2), 83894(1), 83896(1), 83897(1), 83907(1), 83912(1) |
|
| Patents: |
N/A |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Room temperature, avoid freezing |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
|
| Test Turnaround: |
14-21 days |
|
|
|
