Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
General population carrier screening for spinal muscular atrophy (SMA)
Carrier screening for reproductive partners of known SMA carriers
Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene (SMN1) or other family history 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 |
---|---|---|---|
CULFB | Fibroblast Culture for Genetic Test | Yes | No |
For tissue cultures only: If skin biopsy is received, fibroblast culture for genetic test will be added per laboratory protocol and charged separately.
Dosage Analysis by Digital Droplet Polymerase Chain Reaction (ddPCR)