2013444
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Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal

SMA DD FE
Example Reports
Negative
Positive

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Fetal Molecular Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY Patients)

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Additional Technical Information

Ordering Recommendation

Prenatal diagnostic testing for spinal muscular atrophy (SMA) when both parents carry a deletion of SMN1 or have a previous child with SMA caused by a deletion of SMN1.

Maternal cell contamination (MCC) analysis is required and performed at no additional charge. Order Maternal Cell Contamination, Maternal Specimen (0050608) on a maternal blood specimen.

For guidance on ordering maternal cell contamination studies, please refer to Maternal Cell Contamination (MCC) Analysis Guide.  

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Fetal Specimen: Cultured amniocytes OR cultured chorionic villus sampling (CVS).

Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.

Specimen Preparation

Transport: Two T-25 flasks of 80% confluent cultured amniocytes OR Two T-25 flasks of 80% confluent cultured chorionic villus sampling (CVS). Cultured amniocytes or cultured CVS is required for testing. If submitting uncultured (direct) amniotic fluid or (direct) CVS and testing is desired on a cultured specimen, add Cell Culture for Genetic Testing (3020627). If transporting flasks, the client is responsible for maintaining backup cultures at the client institution. If ARUP receives cultured fetal cells below minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP.

Storage/Transport Temperature

Preferred transport at room temperature.
Preferred shipment within two days of collection or confluence.

Unacceptable Conditions

Frozen specimens.

Remarks

Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: informed consent is required with submission.

Stability

Room temperature: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable

Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA)

Performed

Varies

Reported

9-10 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
04/20/2026
X
N/A

CPT Codes

81329; 81265 Fetal Cell Contamination (FCC)

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
2013439 SMA Copy Number, SMN1 Copies 35462-1
2013440 SMA Copy Number, SMN2 Copies 54449-4
2013445 SMA Copy Number, Specimen 66746-9
2013446 SMA Copy Number, Interp 35462-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal