Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The LCAT gene encodes the enzyme LCAT, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport back to the liver. Loss-of function mutations have been found to cause fish-eye and Norum disease.
| 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 |
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
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ANGPTL8
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APOA1
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APOA4
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APOA5
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APOC3
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CETP
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GALNT2
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LCAT
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LIPC
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LIPG
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LPL
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RXRG
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USF1
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Chylomicronemia
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ABCA1
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ABCG5
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APOA5
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APOC2
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APOE
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Chylomicron retention disease
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SAR1B
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GPIHBP1
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LCAT
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LIPA
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LIPC
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LMF1
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LPL
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SAR1B
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