|
Test Catalog
|
|
Partial DMD - del/dup only - Females |
#103 |
|
| Type of Disorder: |
Neuromuscular Disorders |
|
| Typical Presentation: |
This test is useful for evaluating female relatives of patients with known deletions or duplications in the DMD gene. For a new diagnosis, please order the Complete DMD Evaluation - Females. |
|
| Disease(s) tested for: |
Duchenne/Becker muscular dystrophy (DMD/BMD) |
|
| Test Details |
|
| Test Code: |
103 |
|
| Profiles that contain this test: |
Complete DMD Evaluation - Females
|
|
| Informed Consent Required: |
Yes |
|
|
| Special Notes: |
Risk assessment is best when there is a known mutation in the proband. If available, please attach this information to the Requisition Form. |
|
| Technical Information |
|
| Utility: |
Detects deletions in the dystrophin gene |
|
| Methodology: |
Multiplex-Ligation Probe Amplification (MLPA) |
|
| Reference Value: |
Band intensity greater than 50% of reference |
|
| Patents: |
5,621,091 |
| CPT Coding |
|
|
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.
|
| Stacked CPT Code(s): |
83891(1), 83900(2), 83901(91), 83909(2), 83912(1), 83914(95) |
|
| CPT 2013: |
81161(1) |
|
| 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: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Refrigerate |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship Monday - Thursday only. |
|
| Test Turnaround: |
21-28 days |
|
|
|
