Kennedy's Disease (SBMA) DNA Test

Test Code
117

Test Details


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

Technical Information


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

CPT Coding


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: 81401(1)

Specimen Requirements


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.

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 14-28 days

Additional Resources

Letters of Medical Necessity

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