Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The INS gene encodes proinsulin which by cleavage of the precursor signal peptide becomes activated. Insulin is an important regulator of glocose homeostasis. Some mutations are associated with autosomal dominant diabetes those include permanent neonatal diabetes and MODY diabetes of type 10. Also, some mutations are associated with abnormal circulating insulin. Those include hyperproinsulinemia, Wakayama insulin and others.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
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