Spinal Muscular Atrophy Carrier Screen

Last Modified: 12/28/2022 5:55:03 AM


Medical Necessity Documentation:  
Client Notes:  
Patient Preparation:  
Specimen Requirements: 4.0 mL Whole Blood in a Lavender Top Tube - EDTA
Collection Instructions:
Minimum Volume: 2.0 mL Whole Blood
Transport & Storage: Temperature/Stability:

8 days Ambient (store & transport)  
14 days Refrigerated

Do not freeze
Rejection Criteria: Frozen • Clotted
Reference Range: Refer to Interpretive Results
Critical Ranges:  
Test Comments:  
Methodology: Allele Specific Real-Time Polymerase Chain Reaction (PCR), ddCt Method
Clinical Significance: This tests for symptomless carriers of Spinal Muscular Dystrophy (SMA).
Documentation:  
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 5 to 7 days
Days Performed: Sunday, Monday, Tuesday, Wednesday, Thursday, Friday, Saturday
Sites Performed: Quest - Chantilly to San Juan Capistrano
PHL Test Code: MSOT
EPIC Test Code: MISC
Send Out Test Code: 39445
Alternate Test Names: SMA Carrier Screen
Included Tests:  
CPT Coding: 81329

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