Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein encoded by this gene is involved in LDL receptor binding. Mutations are rare and cause hypercholesterolemia. Autosomal recessive hypercholesterolemia is a bit confusing term because all the mutations causing hypercholesterolemia exert their dose dependent influence.
The function of this protein is to direct the synthesized LDL receptor to the sinuoidal membrane of hepatocytes.[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 | 20 days | |
| Specimen type | genomic DNA |
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