Disorders


 

Familial Lipoprotein Lipase Deficiency


Synonym(s): Exogenous Hypertriglyceridemia, Familial Hyperchylomicronemia, Familial LPL Deficiency, Hyperlipemia 1, Hyperlipemia I, Idiopathic Familial Hyperlipemia, Type I Hyperlipoproteinemia

 

GeneReviewOMIM

GeneLocusProtein
LPL8p22Lipoprotein lipase

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Oslo University Hospital HF - Ullevaal, Department of Medical Genetics - Unit for Cardiac and Cardiavasular Genetics - Oslo, Norway  
PathWest Laboratory Medicine WA - Royal Perth Hospital, Cardiovascular Genetics Laboratory - Perth, Australia  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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