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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

Specialties

Book a collection