GTR Test Accession:
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GTR000030379.3
Last updated in GTR:
2017-03-01
View version history
GTR000030379.3,
last updated:
2017-03-01
GTR000030379.2,
last updated:
2016-03-28
GTR000030379.1,
registered in GTR:
2013-05-02
Last annual review date for the lab: 2024-06-11
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At a Glance
Conditions (1):
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Hyperlipoproteinemia, type I
Genes (1):
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LPL (8p21.3)
Study description:
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Molecular identification of causative mutations in the lipoprotein lipase gene …
Recruitment status:
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Currently open
Not provided
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Study Description
Test purpose:
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Contribute to generalizable knowledge
Description:
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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:
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Department of Endocrinology and Metabolism
Person responsible for the study:
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Minoru Okubo, PhD, MD, Lab Director
Study contact:
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Minoru Okubo, PhD, MD, Lab Director
Research contact policy:
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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.
Recommended fields not provided:
Protocol number
Participation
Recruitment status:
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Currently open
Consent form:
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Not provided
Recommended fields not provided:
Eligibility criteria
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information
Clinical resources:
Molecular resources:
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