Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene CEL encodes a glycoprotein secreted from the pancreas and the lactating mammary gland. Its function is to cleave cholesterol esters ti facilitate its absorption in the digestive tract.
In exon 11 there is a variable number of repeats (VNTR) found in normal controls (7-23). A study found a correlation between only three such repeats and the incidence of diabetes. These findings were not generally approved, so now it is considered suffient criterion for the diagnosis of type 8 MODY.[Error: Macro 'ref' doesn't exist]
| 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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