|
Test Catalog
|
|
Complete ALS Evaluation |
#723 |
|
| 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: |
723 |
|
| Profile includes: |
Familial Amyotrophic Lateral Sclerosis (SOD1) DNA Test, FUS DNA Sequencing Test, TARDBP DNA Sequencing Test, ANG DNA Sequencing test, FIG4 DNA Sequencing Test
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
All tests performed at Athena Diagnostics laboratories. All tests available as singles except FIG4. |
|
| Technical Information |
|
| Utility: |
Detects mutations in the most common genes associated with typical ALS, detecting up to 35% of familial forms of ALS. |
|
| Methodology: |
DNA Sequencing |
|
| Reference Value: |
No mutation detected |
|
| CPT Code(s): |
83891(1), 83898(49), 83904(49), 83909(5), 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 |
|
|
|
