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. |
Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene
Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or when disease-causing variants are unknown
Second-tier carrier screening for the reproductive partner of a known SMA carrier
Testing includes full gene sequencing of the SMN1 gene.
Test ID | Reporting Name | Available Separately | Always Performed |
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FIBR | Fibroblast Culture | Yes | No |
CRYOB | Cryopreserve for Biochem Studies | No | No |
If a skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.
See Inherited Motor Neuron Disease Testing Algorithm in Special Instructions.
Polymerase Chain Reaction (PCR) followed by DNA Sequencing