| Test code: | 6520 |
| Type of disorder: | Motor Neuron Disorders |
| Disease(s) tested for: | Amyotrophic Lateral Sclerosis |
| Genes Included: | ALS2, ANG, C9orf72, CHMP2B, DCTN1, FIG4, FUS, OPTN, PFN1, SETX, SIGMAR1, SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | ALS is characterized by progressive degeneration of upper and lower motor neurons leading to muscle stiffness, fasciculations, and atrophy. This test includes sequencing 16 genes including ALS2, ANG, CHMP2B, DCTN1, FIG4, FUS, OPTN, PFN1, SETX, SIGMAR1, SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP and C9orf72 repeat expansion test. This test has a sensitivity of 60-70% of familial ALS cases and 15% of sporadic ALS cases. Typical Presentation: Gradual onset, progressive muscle failure weakness, fatigue, problems with swallowing, abnormal reflexes, cramping, fasciculations |
| Methodology: | Next Generation Sequencing, Repeat Expansion Detection by PCR |
| Reference Range: | Accompanies report |
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: | 81403, 81404, 81405, 81406(4), 81479 |
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. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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