Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene product is a hormone sensing transcription factor. Mutations cause autosomal dominant partial lipodystrophy type 3. Diseases associated with variations include glioma susceptibility 1, obesity, diabetes, and insulin resistance. Somatic mutations are observed in colon cancer cells.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 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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Combined familial hyperlipidemia with adipose tissue dysfunction
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C5AR2
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CREB3L3
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LEPR
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LIPE
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PNPLA2
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PPARG
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USF1
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