Fatty acid oxidation disorders (26-gene panel, NGS)
Code: 10180
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(26 genes)
- ACAD8
- ACAD9
- ACADL
- ACADM
- ACADS
- ACADSB
- ACADVL
- ALDH5A1
- CPT1A
- CPT2
- ECHS1
- ETFA
- ETFB
- ETFDH
- GLUD1
- HADH
- HADHA
- HADHB
- HMGCL
- HMGCS2
- HSD17B10
- LPIN1
- PPARG
- SLC22A5
- SLC25A20
- TAZ