Familial hypercholesterolemia (18-gene panel, NGS)
Code: 10059
The availability and turnaround time of this test should be confirmed with the unit before collection.
- Method
- Next-generation sequencing (NGS)
- Collection requirements
- EDTA: Blood (10 mL)
- Sample stability
- Refrigerated at 2-8 °C
- Turnaround time
- 33 working days
- Preparation and notes
- IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.
Genes tested(18 genes)
- ABCA1
- ABCG5
- ABCG8
- ALMS1
- APOA1
- APOA5
- APOB
- APOC2
- APOC3
- APOE
- CREB3L3
- GPIHBP1
- LDLR
- LDLRAP1
- LIPA
- LMF1
- LPL
- PCSK9