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Labcorp Oklahoma, Inc.
Test Directory


Index:

Spinal Muscular Atrophy (SMA), Fetal

Order Name SMA Fetal
Test Number: 5194937
Revision Date 03/21/2023
Test Name Methodology LOINC Code
Spinal Muscular Atrophy (SMA), Fetal
See Test Notes n/a 
SPECIMEN REQUIREMENTS
Specimen Specimen Volume (min) Specimen Type Specimen Container Transport Environment
Preferred 4 mL (3 mL) Amniotic Fluid Sterile Screwtop Container Room Temperature
Alternate 1 See Instructions (See Instructions) See Instructions See Instructions Room Temperature
Instructions Specimen Type: Cultured amniotic fluid or cultured chorionic (CVS) cells, or cordblood, is required for testing. Direct amniotic fluid or CVS specimen may be submitted; additional culture fee may be applied.
Specimen Volume: One confluent T-25 flask or 4 mL cordblood. If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.
Mininum Volume: One confluent T-25 flask or 3 mL cordblood
Collection: Standard sterile techniques. Transfer aseptically to sterile tubes. Amniotic fluid: Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.
Specimen Storage: Maintain specimen at room temperature. Do not freeze.
Special Instructions: Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
GENERAL INFORMATION
Expected TAT 14 - 21 days In some cases, additional time may be required for confirmatory or reflex tests.  
Performing Labcorp Test Code 481651 
Notes Labcorp Test Code: 481651
Methodology
Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). Reflex testing to SMN2 copy number analysis is performed for affected fetus with 0 copies of SMN1. Maternal cell contamination analysis (MCC): Analysis of short tandem repeat markers by multiplex fluorescent polymerase chain reaction (PCR) and capillary electrophoresis.
Lab Section Reference Lab