Disorders

Familial Lipoprotein Lipase Deficiency

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

GeneReview OMIM

Gene	Locus	Protein
LPL	8p22	Lipoprotein 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.