Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
First-tier newborn screening for spinal muscular atrophy (SMA)
Prenatal testing for SMA
Diagnostic testing to confirm a suspected diagnosis of SMA
SMN1 exon 7 copy number and SMN2 exon 7 copy number are determined. Also ascertains whether the g.27134T>G polymorphism is present or absent in patients found to have 2 copies of SMN1.
Test ID | Reporting Name | Available Separately | Always Performed |
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CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
CULFB | Fibroblast Culture for Genetic Test | Yes | No |
MATCC | Maternal Cell Contamination, B | Yes | No |
For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately.
If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added per laboratory protocol and charged separately.
For any prenatal specimen that is received, maternal cell contamination testing will be added per laboratory protocol and charged separately.
For more information see Newborn Screening Act Sheet Spinal Muscular Atrophy: Zero Functioning Copies of SMN1 in Special Instructions.
The following algorithms are available in Special Instructions:
Dosage Analysis by Digital Droplet Polymerase Chain Reaction (ddPCR)