|
Test Catalog
|
|
ANG DNA Sequencing test |
#622 |
|
| Type of Disorder: |
Motor Neuron Disease |
|
| Typical Presentation: |
Symptoms can start in any muscle including distal, proximal, axial, respiratory or bulbar leading to muscle weakness and wasting, increased muscle tone with hyperreflexia, and at times diaphragmatic and/or bulbar weakness. Aytpical forms can include symptoms of dementia, parkinsonism, or both, although frontal and/or temporal congnitive impairment have been reported in up to 50% of ALS patients. |
|
| Indications for Testing: |
Prominent UMN or LMN involvement; patients whose families are at risk for ALS; atypical ALS symptoms |
|
| Disease(s) tested for: |
Amyotrophic Lateral Sclerosis |
|
| Test Details |
|
| Test Code: |
622 |
|
| Profiles that contain this test: |
Complete ALS Evaluation
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
Consider Complete ALS evaluation for increased detection rate. |
|
| Technical Information |
|
| Utility: |
Detects famililal ALS cases. Has been reported in sporadic cases as well. |
|
| Methodology: |
DNA Sequencing |
|
| Reference Value: |
No mutation detected |
|
| CPT Code(s): |
83891(1), 83898(2), 83904(2), 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 within 24 hours of drawing |
|
| Test Turnaround: |
28 days |
|
|
|
