Lipodystrophies (17-gene panel, NGS)
Code: 11089
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(17 genes)
- AGPAT2
- AKT2
- BSCL2
- CAV1
- CAVIN1
- CIDEC
- FBN1
- KCNJ6
- LIPE
- LMNA
- LMNB2
- PIK3R1
- PLIN1
- POLD1
- PPARG
- TBC1D4
- ZMPSTE24