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. |
Confirmation of a suspected clinical diagnosis of Gaucher disease
Carrier testing for individuals of Ashkenazi Jewish ancestry or who have a family history of Gaucher disease
Prenatal diagnosis of Gaucher disease in at-risk pregnancies
Mutations tested for include N370S, IVS2(+1)G->A, 84GG, R496H, L444P, delta55bp, V394L, and D409H.
Test ID | Reporting Name | Available Separately | Always Performed |
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CULFB | Fibroblast Culture for Genetic Test | Yes | No |
CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
MATCC | Maternal Cell Contamination, B | Yes | No |
For prenatal specimens only: If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
See Newborn Screen Follow-up for Gaucher Disease in Special Instructions.
For more information, see Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase in Special Instructions.
Polymerase Chain Reaction (PCR)