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Ataxia, Complete Recessive Evaluation - Athena #6910
MessageTest cost $4104
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.
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,RECESSIVE(ATH#6910)
Includes
Genes Included: ADCK3, AFG3L2, ANO10, APTX, ATM, FLVCR1, FXN, GRM1, MRE11A, MTPAP, POLG, SACS, SETX, SIL1, SYNE1, SYT14, TDP1, TTPA
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
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 the patient report in CPRS.
Clinical Significance
Type of disorder: Movement Disorders
Disease(s) tested for: Autosomal Recessive Ataxia
Utility: This test includes FXN repeat expansion test, 18 genes sequenced, and ATM deletion test that identifies genes associated with autosomal recessive ataxias, including Friedreich ataxia. Smaller panels of its components are also available.
Disease(s) tested for: Autosomal Recessive Ataxia
Utility: This test includes FXN repeat expansion test, 18 genes sequenced, and ATM deletion test that identifies genes associated with autosomal recessive ataxias, including Friedreich ataxia. 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
