| Test code: | 670 |
| Type of disorder: | Motor Neuron Disorders |
| Disease(s) tested for: | Amyotrophic Lateral Sclerosis |
| Genes Included: | C9orf72, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects repeat expansions in the C9ORF72 gene. 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. Atypical forms can include symptoms of dementia, parkinsonism, or both, although frontal and/or temporal cognitive impairment have been reported in up to 50% of ALS patients. Indications for testing: Prominent UMN or LMN involvement; patients with a positive family history of neurodegenerative diseases; atypical ALS symptoms. |
| Methodology: | Repeat Expansion Detection by PCR |
| Reference Range: | Normal <21 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.
| CPT: | 81479(1) |
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: | 14-21 days |
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