Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Insulin receptor

The gene INSR encodes the insulin receptor, which is responsible for insulin's inreacellular metabolic actions. Depending on the nature of the mutation different diseases ensue. Insulin resitance is autosomal dominant, while Donohue syndrome (Leprechaunism) and Rabson-Mendenhall syndrome are autosomal recessive.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperinsulinemic hypoglycemia 5
INSR
Leprechaunism
INSR
Rabson-Mendenhall syndrome
INSR
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR
Update:
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