Hypercholesterolemia, Autosomal Dominant, 3; Hchola3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Hypercholesterolemia, Autosomal Dominant, 3; Hchola3

PCSK9

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Hypercholesterolemia, Autosomal Dominant, 3; Hchola3

Hypercholesterolemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hypercholesterolemia, Autosomal Dominant, 3; Hchola3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypercholesterolemia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). LDLRAP1, PCSK9, LDLR Specificity 34 % Genes 100 %
Hypolipidemia and Hypocholesterolemia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). PCSK9, ANGPTL3, MTTP Specificity 34 % Genes 100 %
PCSK9. By Institute for Human Genetics University Clinic Freiburg (Germany). PCSK9 Specificity 100 % Genes 100 %
Familial hypercholesterolemia. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States). PCSK9, LDLR Specificity 50 % Genes 100 %
FHNext. By Ambry Genetics (United States). SLCO1B1, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 100 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...) View the complete list with 5 more genes Panel complete gene list SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT, LDLR, LIPA, LIPC, LIPG, MTTP Specificity 4 % Genes 100 %
PCSK9. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). PCSK9 Specificity 100 % Genes 100 %
APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). LDLRAP1, PCSK9, LDLR Specificity 34 % Genes 100 %

You can get up to 51 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LEBER CONGENITAL AMAUROSIS 7; LCA7 HYDROLETHALUS SYNDROME 2; HLS2 ECTOPIA LENTIS ET PUPILLAE GRANGE SYNDROME; GRNG LAMELLAR ICHTHYOSIS BURULI ULCER, SUSCEPTIBILITY TO