Test Entry - Detail

Hypertriglyceridaemia Genetic Screen


General
  Clinical Use: Specialist request for the investigation of severe hypertriglyceridaemia with suspicion of familial chylomicronaemia syndrome.
Testing includes massively parallel sequencing of cardiometabolic genes with targeted analysis of monogenic hypertriglyceridaemia genes (LPL, APOA5, APOC2, APOE, LMF1, GPIHBP1, APOC3, GPD1, PPARG, LMNA).
  Availability: As required.
  Aliases/Synonyms: HTG Genetic Screen,   Hyper TG Genetic Screen,   Lipoprotein Lipase ,   LPL Genotyping,   TG Gene Test (Hypertriglyceride Genetic Screen),  
  Code: BHTGC
  Handling Instructions (to laboratory): Send sample ambient.
  Hyperlink:
  Reference Interval:
Not Applicable


Collection Requirements
  Container: EDTA (LAVENDER),  
  Sample Type: See container
  Minimum Collection Volume:
  Collection Instructions:


Processing Requirements
  Alternate Containers:
  Processing Instructions:
  Minimum Assay Volume:
  Stability: 3 days ambient
  Transport Instructions (to testing laboratory): Send sample ambient.


Testing Locations
  Performed at:
Section Department Site Contact Phone
Cardiovascular Genetics Biochemistry Fiona Stanley Hospital 6152 8128


Last Updated : 08-10-2020 08:31