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. |
Molecular diagnosis or carrier status of mucolipidosis II alpha/beta and mucolipidosis III alpha/beta in conjunction with identification of characteristic clinical, radiographic, and biochemical findings, and genetic counseling for family members
Testing includes full gene sequencing of the GNPTAB gene.
Test ID | Reporting Name | Available Separately | Always Performed |
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CULFB | Fibroblast Culture for Genetic Test | Yes | No |
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 in Special Instructions.
Polymerase Chain Reaction (PCR) Amplification/Universal Primer Sequencing of GNPTAB for all Coding Exons