HSP, Supplemental Recessive Evaluation - Athena #6622

Message

This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.

Test Code

HSP,SUPPL R(ATH#6622)

Alias/See Also

Hereditary Spastic Paraplegia

Includes

Genes Included: ALS2, AP5Z1, CYP7B1, FA2H, KIF1A, PNPLA6, SACS, SPG20, SPG21

Preferred Specimen

Whole blood - Lavender EDTA - 3 tubes

Minimum Volume

Preferred: 8 mL
Minimum: 6 mL

Transport Temperature

Room temperature. Avoid freezing.

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

Methodology
Next Generation Sequencing

Report Available

28 - 42 days

Reference Range

Provided with the patient report in CPRS.

Clinical Significance

Type of disorder: Motor Neuron Disorders

Typical presentation: Stiffness, weakness, spasticity of lower limbs, cramping, sensory disturbances, bladder dysfunction. Complex HSP may include seizures, intellectual disability, muscle wasting, retinopathy, dystonia, hearing loss, cerebellar involvement.

Disease(s) tested for: Hereditary Spastic Paraplegia

Utility: This test includes sequencing 9 genes including CYP7B1, ALS2, AP5Z1, FA2H, KIF1A, PNPLA6, SACS, SPG20 and SPG21. This test will detect nonprevalent causes of HSP.

Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

Additional Information
Link to Athena Diagnostics test catalog

Last Updated: December 18, 2015

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.