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Specimen Collection Manual and Test Catalog

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SPINAL MUSCLE ATROPHY (SMA )CARRIER SCREEN

Geisinger Epic Procedure Code:  LAB3079    Geisinger Epic ID:  44139

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Alternate collection container: 
6 mL pink-top K2 EDTA tube
Specimen required: 

4 mL whole blood; minimum 2 mL



SPECIMEN PROCESSING
Processing instructions: 

Store and ship room temperature immediately. Do not freeze.


Transport temperature: 

Room temperature.


Specimen stability: 

Room temperature: 8 days. Refrigerated: 14 days. Frozen: Unacceptable.


Rejection criteria: 

Frozen specimens. Clotted specimens.



TEST DETAILS
CPT code(s):  81329
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: 

SMA carrier screen.


Methodology: 
Allele Specific Real-Time Polymerase Chain Reaction (PCR), ddCt Method
Synonyms: 

Quest test code 39445, Spinal Muscular Atrophy Carrier Screen, SMACT


Clinical significance: 

This tests for symptomless carriers of Spinal Muscular Atrophy (SMA).


Review Date:  12/17/2024

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