|
Test Catalog
|
| Type of Disorder: |
Intellectual disability |
|
| Typical Presentation: |
Idiopathic mental retardation |
|
| Disease(s) tested for: |
Fragile X mental retardation, FXTAS |
|
| Test Details |
|
| Test Code: |
104 |
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
No |
|
| Special Notes: |
Prenatal testing is available for this test. Please call Athena for details. |
|
| Technical Information |
|
| Utility: |
Detects the presence of a trinucleotide repeat sequence mutation in the Fragile-X gene, FMR-1, and identifies affected males and females, as well as transmitting males and female carriers of the mutation |
|
| Methodology: |
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot |
|
| Reference Value: |
Normal: 6-39 CGG trinucleotide repeats |
|
| Patents: |
5,658,764, 6,200,747 |
| 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), 83892(2), 83894(1), 83896(1), 83897(1), 83898(1), 83909(1), 83912(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: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Room temperature |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday - Thursday only. |
|
| Test Turnaround: |
14-21 days |
|
|
|
