Ataxia, Comprhensive Evaluation

Message

Order as a miscellaneous.

Test Code

6930 (Athena test code)

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 collected in two (lavender-top)EDTA tubes.

Minimum Volume

10mL (2 tubes)

Instructions

Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.

Transport Container

Room temperature

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

Report Available

21-28 days

Clinical Significance

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
Marlborough, MA 01752

Last Updated: December 27, 2023

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.