|
Test Catalog
|
|
SCA7 Expansion Analysis |
#677 |
|
| Type of Disorder: |
Movement Disorders |
|
| Typical Presentation: |
Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait |
|
| Indications for Testing: |
Spinocerebellar ataxia |
|
| Disease(s) tested for: |
Spinocerebellar ataxia type 7 (SCA7) |
|
| Test Details |
|
| Test Code: |
677 |
|
| Profiles that contain this test: |
Autosomal Dominant Ataxia Evaluation, Complete Ataxia Evaluation
|
|
| Informed Consent Required: |
No |
|
|
| Special Notes: |
Phase 1 testing is for SCA7 expansions with CAG repeat sizes that are determined using PCR and capillary electorphoresis fragment analysis. This method is accurate in detecting expansions <80 repeats. Phase 2 of our testing is for patients under the age of 16 years who are homozygous for a normal repeat allellele, an additional screen for expansions >80 repeats will be done. This test is done using fluorescent short tandem repeat (STR)-primed PCR. |
|
| Technical Information |
|
| Utility: |
Detects CAG triplet repeat expansion in the SCA7 gene |
|
| Methodology: |
Polymerase Chain Reaction (PCR), Fragment Analysis by Capillary Electrophoresis, Fluorescent Short Tandem Repeat-Primed PCR |
|
| Reference Value: |
Normal: < 18 CAG trinucleotide repeats |
|
| Patents: |
6,280,938, 6,514,755, 7,118,893 |
| 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), 83898(1), 83909(1), 83912(1) |
|
| CPT 2013: |
81479(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: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Do not freeze, refrigerate |
|
| Shipping Conditions: |
Room tempature avoid freezing |
|
| Test Turnaround: |
21 days |
|
|
|
