LPL deficiency
Research Genetic test
offered by
GTR Test Accession: Help GTR000030379.3
Last updated in GTR: 2017-03-01
Last annual review date for the lab: 2024-06-11 LinkOut
At a Glance
Hyperlipoproteinemia, type I
Genes (1): Help
LPL (8p21.3)
Molecular identification of causative mutations in the lipoprotein lipase gene …
Currently open
Not provided
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Molecular identification of causative mutations in the lipoprotein lipase gene by direct sequencing and linkage analysis
View citations (3)
  • No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61-->stop) in the lipoprotein lipase gene. Ebara T, et al. Atherosclerosis. 2001;159(2):375-9. doi:10.1016/s0021-9150(01)00510-x. PMID: 11730817.
  • Okubo M, Horinishi A, Saito M, Ebara T, Endo Y, Kaku K, Murase T, Eto M. A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency. Mol Genet Metab. 2007;92(3):229-33. doi:10.1016/j.ymgme.2007.06.018. Epub 2007 Aug 13. PMID: 17706445.
  • Ebara T, Endo Y, Yoshiike S, Tsuji M, Taguchi S, Murase T, Okubo M. A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis. Clin Chim Acta. 2007;386(1-2):100-4. doi:10.1016/j.cca.2007.08.011. Epub 2007 Sep 01. PMID: 17854791.
Offered by: Help
Department of Endocrinology and Metabolism
Person responsible for the study: Help
Minoru Okubo, PhD, MD, Lab Director
Study contact: Help
Minoru Okubo, PhD, MD, Lab Director
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.
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Recruitment status: Help
Currently open
Consent form: Help
Not provided
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Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Additional Information

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