Spinal Muscular Atrophy (SMA), Fetal Analysis

Also known as: Arthrogryposis multiplex congenita, SMA testing, SMN1 copy number analysis

Clinical Use

Order Test

Use

This test is used for prenatal diagnosis for pregnancies at risk for spinal muscular atrophy.

Special Instructions

Not provided.

Limitations

The test does not detect germline mosaicism and large chromosomal aberrations or variants in regions or genes not included in this test. False-positive or false-negative results may occur due to rare genetic variants, sample mislabeling, or other reasons. The test has not been cleared or approved by the FDA.

Test Details

Methodology

PCR-based (qPCR)

Biomarkers

2 components

SMN1 Copy Number Analysis • qPCRMaternal Cell Contamination Analysis • Multiplex fluorescent PCR

LOINC Codes

Result Codes

42784-9 - Ethnic Background Stated
31208-2 - Specimen source
89993-0 - Clinical genetics Counseling note
42349-1
11951-1 - Fet ID
41053-0 - SMN1 gene Mut Anl Bld/T
54449-4 - SMN2 gene Mut Anl Bld/T
53039-4 - Gene dis anl carrier interp-Imp
8262-8 - Service Cmnt 02-Imp
59266-7 - Maternal Cell Contam Spec
62385-0 - Recommendation Patient Doc-Imp
55752-0 - Clinical info
8251-1 - Service Cmnt-Imp
49549-9 - Ref lab test method
36908-2 - Gene Mut Tested Bld/T
75608-0 - Citation Ref Lab Test
72486-4 - Lab director name Provider
51969-4 - Gene analysis narr rpt Doc

Result Turnaround Time

8-14 days

Specimen

Amniotic Fluid

Volume

One confluent T-25 flask

Minimum Volume

One confluent T-25 flask or 3 mL cord blood

Container

Sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes

Collection Instructions

Standard sterile techniques; transfer aseptically to sterile tubes. Discard first 2 mL of amniotic fluid aspirated to avoid maternal cell contamination.