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Ataxia, Complete Dominant Evaluation - Athena #6900
MessageThis 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,DOMINANT(ATH#6900)
Includes
Genes Included: AFG3L2, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, CACNB4, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PPP2R2B, PRKCG, SLC1A3 , SPTBN2, TBP, TGM6, TTBK2, VAMP1
Preferred Specimen
Whole blood - Lavender EDTA - 4 tubes
Minimum Volume
Preferred: 10 mL
Minimum: 8 mL
Minimum: 8 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, Southern Blot
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Movement Disorders
Typical presentation: Disease(s) tested for: Autosomal Dominant Ataxia
Utility: This test includes 10 repeat expansion tests and 16 genes sequenced that identifies mutations and repeat expansions associated with autosomal dominant forms of ataxia. Smaller panels of its components are also available.
Typical presentation: Disease(s) tested for: Autosomal Dominant Ataxia
Utility: This test includes 10 repeat expansion tests and 16 genes sequenced that identifies mutations and repeat expansions associated with autosomal dominant forms of 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 test catalog for Athena Diagnostics
Last Updated: December 18, 2015
