Spinal Muscular Atrophy (SMA), Fetal
Order Name
SMA Fetal
Test Number: 5194937
Revision Date 03/21/2023
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. |
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| 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 |