|
Test Catalog
|
|
Alport Syndrome Evaluation |
#755 |
|
| Type of Disorder: |
Kidney Disorders |
|
| Typical Presentation: |
Renal failure in men, with deafness and often lenticonus.
|
|
| Disease(s) tested for: |
Alport Syndrome |
|
| Test Details |
|
| Test Code: |
755 |
|
| Profile includes: |
COL4A5 Deletion Analysis
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
This evaluation includes COL4A5 DNA sequencing and deletion analysis. |
|
| Technical Information |
|
| Utility: |
Detects mutations and deletions in the COL4A5 gene |
|
| Methodology: |
DNA sequencing, Multiplex Ligation-dependent Probe Amplification |
|
| Reference Value: |
No sequence alteration or deletion detected in COL4A5 |
|
| CPT Code(s): |
83891(1), 83896(55), 83898(52), 83900(1), 83901(53), 83904(52), 83909(1), 83912(1) |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 ml |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Refrigerate |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday.
|
|
| Test Turnaround: |
6-8 weeks |
|
|
[back to top]
|
