Ataxia, Comprehensive Evaluation - Athena #6930

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

ATAXIA,COMPLETE(ATH#6930)

Includes

Genes Included: ADCK3, AFG3L2, ANO10, APTX, ATM, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, CACNB4, EEF2, FGF14, FLVCR1, FXN, GRM1, ITPR1, KCNA1, KCNC3, KCND3, MRE11A, MTPAP, PDYN, POLG, PPP2R2B, PRKCG, SACS, SETX, SIL1, SLC1A3 , SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TTBK2, TTPA, VAMP1

Preferred Specimen

Whole blood - Lavender EDTA - 4 tubes

Minimum Volume

Preferred: 10 mL
Minimum: 8 mL

Instructions

Obtain approval prior to ordering. Notify West Roxbury Send Out department prior to draw. **Draw Mon or Tue ONLY.** Ship within 24 hours.

Transport Temperature

Room temperature. Avoid freezing.

Specimen Stability

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

Methodology
Next Generation Sequencing, Repeat Expansion Detection by PCR, Dosage Analysis, Southern Blot

Report Available

28 - 42 days

Reference Range

Provided with patient report in CPRS.

Clinical Significance

Type of disorder: Movement Disorders

Disease(s) tested for: Hereditary Ataxia

Utility: This test includes 11 repeat expansion tests, 33 genes sequenced, and ATM deletion test that identifies mutations and repeat expansions associated with all types of hereditary ataxias. This test may be useful for suspected hereditary ataxia with unavailable or inconclusive family history. Smaller panels of its components are also available.

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.