Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Test Name: Sunquest Test Code Epic Procedure Code Or ID CPT Code:  

ATAXIA COMPREHENSIVE EVALUATION

ORDERING INFORMATION:
Sunquest Test Code:
ATAXI      Geisinger Epic Procedure Code: ATAX         Geisinger Epic ID: 35860

SPECIMEN COLLECTION
Specimen type:
Whole blood
Preferred collection container:
Specimen required:
10 mL EDTA whole blood; minimum 8 mL.
Special notes:
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing

SPECIMEN PROCESSING
Transport temperature:
Room temperature.
Specimen stability:
Room temperature: 10 days. Refrigerated: 10 days. Frozen: Unacceptable.
Rejection criteria:
Stability limits exceeded. Frozen specimen unacceptable.

TEST DETAILS
CPT code(s):
81401 x11, 81403, 81404 x2, 81406 x5, 81408 x2, 81479, 81405 x2, 81407
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.  The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
Test includes:
Ataxia with Vitamin E Deficiency (AVED) TTPA DNA Sequencing Test, DRPLA (ATN1) Repeat Expansion Test, Friedreich Ataxia (FXN) DNA Sequencing Test, Friedreich Ataxia (FXN) Repeat Expansion Test, SCA1 (ATXN1) Repeat Expansion Test, SCA10 (ATXN10) Repeat Expansion Test, SCA12 (PPP2R2B) Repeat Expansion Test, SCA17 (TBP) Repeat Expansion Test, SCA2 (ATXN2) Repeat Expansion Test, SCA3 (MJD/ATXN3) Repeat Expansion Test, SCA6 (CACNA1A) Repeat Expansion Test, SCA7 (ATXN7) Repeat Expansion Test, SCA8 (ATXN8OS) Repeat Expansion Test
Methodology:
Next Generation Sequencing
Dosage Analysis
Repeat Expansion Detection by PCR
Southern Blot
Synonyms:
Quest test code 93242, Athena test code 6930, Ataxia comprehensive evaluation
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 Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Report available: 21-28 days.    
Performed stat? No
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