81290 Mcoln1 gene
Pathology & Lab
Also known as: MCOLN1 gene testing, mucolipidosis IV genetic test
Mucolipidosis IV protein (MCOLN1) gene mutation analysis to identify variants causing mucolipidosis IV, a lysosomal storage disorder.
Clinical Context
Detects MCOLN1 mutations causing mucolipidosis IV affecting neurons and eyes. Used for diagnosis, carrier screening, and prenatal testing.
RVU Breakdown
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Specialties
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