Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene ENPP1 encodes a transmembrane glycoprotein that cleaved various phosphodiesterbounds. Mutations are responsible for autosomal recessive hypophosphatemic rickets type 2 and for also recessive general calcification of infancy type 1. Also it is a risk gene for obesity and insulin resistance.
| 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 |
Insulin resistance
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CIDEC
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Diabetes mellitus with insulin resistance and acanthosis nigricans
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INSR
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ENPP1
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IRS1
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IRS2
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PPARG
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