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. |
Identifying variants within the IDUA gene
Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I)
Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified
Testing includes full gene sequencing of the IDUA 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 skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be performed at an additional charge.
The following algorithms are available in Special Instructions:
-Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
-Newborn Screen Follow-up for Mucopolysaccharidosis Type I
For more information, see Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase in Special Instructions.
Polymerase Chain Reaction (PCR) followed by DNA Sequencing