Hypercholesterolemia, Autosomal Dominant, 3; Hchola3

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
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

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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