| Test code: |
117 |
| Type of disorder: |
Motor Neuron Disorders |
| Disease(s) tested for: |
Kennedy's Disease, Spinal and Bulbar Muscular Atrophy |
| Informed Consent Required: |
This test requires physician attestation that patient consent has been received |
| Clinical Significance: |
Detects CAG triplet repeat expansion in the androgen receptor gene
Typical Presentation: The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia |
| Methodology: |
Repeat Expansion |
| Reference Range: |
Normal: 11-33 CAG trinucleotide repeats |
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.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: |
Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. |
| Instructions: |
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. |
| Transport Temperature: |
Room temperature |
| Set-up/Analytic Time: |
14-28 days |