PCSK9 gene related symptoms and diseases
All the information presented here about the PCSK9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PCSK9 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypercholesterolemia | Very Common - Between 80% and 100% cases |
Increased LDL cholesterol concentration | Uncommon - Between 30% and 50% cases |
Abnormal internal carotid artery morphology | Uncommon - Between 30% and 50% cases |
Myocardial steatosis | Uncommon - Between 30% and 50% cases |
Cerebral artery atherosclerosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PCSK9 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormal tendon morphology
- Aortic atherosclerosis
- Premature arteriosclerosis
- Abnormality of nervous system physiology
- Coronary artery aneurysm
- Calcification of the aorta
- Renal steatosis
- Tendon xanthomatosis
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PCSK9 gene
Here you will find a list of rare diseases related to the PCSK9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
Alternate names
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 Is also known as fh3
Most common symptoms of HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
- Hypercholesterolemia
More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Alternate names
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh
Most common symptoms of HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
- Hypertension
- Dyspnea
- Arthralgia
- Hepatic steatosis
- Sudden cardiac death
More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
SOURCES: ORPHANET
Search interest in PCSK9
Potential gene panels for PCSK9 gene
Hypercholesterolemia Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Hypolipidemia and Hypocholesterolemia Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypolipidemia and Hypocholesterolemia that also includes the following genes: PCSK9 ANGPTL3 MTTP
More info about this panel![](/img/flags/United-states.png)
PCSK9 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Familial hypercholesterolemia Panel
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By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children Familial hypercholesterolemia that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
FHNext Panel
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By Ambry Genetics FHNext that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel
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By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
PCSK9. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hypercholesterolemia, familial (sequence analysis of PCSK9 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Hypercholesterolemia, familial (NGS panel for 15 genes) Panel
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By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Hypercholesterolemia, familial (NGS panel for 3 genes) Panel
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By CGC Genetics Hypercholesterolemia, familial (NGS panel for 3 genes) that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Familial Hypercholesterolemia, Autosomal Dominant, 3 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Low density lipoprotein cholesterol level QTL 1 Panel
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By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Familial hypercholesterolemia Panel
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By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal Familial hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/Norway.png.pagespeed.ce.GSBqxrgR8P.png)
Familial Hypercholesterolemia Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Familial Hypercholesterolemia Sequencing Panel with CNV Detection that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia via PCSK9 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia, Autosomal Dominant, 3 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Familial Hypercholesterolemia Panel
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By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Familial Hypercholesterolemia that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hypercholesterolemia 3 AD Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hypercholesterolemia, familial, PCSK9 Panel
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By GGA - Galil Genetic Analysis
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Israel.png.pagespeed.ce.KciyoqIVu_.png)
Familial Hypercholesterolemia, Autosomal Dominant, 3 (PCSK9) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Familial Hypercholesterolemia Panel
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By Asper Biogene Asper Biogene LLC Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
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By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Cardiovascular Diseases_General Panel Panel
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By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familialhypercholesterolemia Basic Panel Panel
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By Health in Code Familialhypercholesterolemia Basic Panel that also includes the following genes: SLCO1B1 LDLRAP1 PCSK9 APOE LDLR
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Dyslipidemias / Early atherosclerosis Panel
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By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hypolipidemias Panel
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By Health in Code Hypolipidemias that also includes the following genes: SAR1B PCSK9 MYLIP ANGPTL3 APOC3 LCAT ABCG1 MTTP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familialhypercholesterolemia Extended Panel Panel
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By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial Hypercholesterolaemia Genetic Screen Panel
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By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Familial Hypercholesterolaemia Genetic Screen that also includes the following genes: ABCG5 ABCG8 LDLRAP1 PCSK9 STAP1 APOE LDLR LIPA
More info about this panel![](/img/flags/xAustralia.png.pagespeed.ic.iG4js83Ga3.png)
Familial hypercholesterolemia (APOB, LDLR, PCSK9) Panel
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By Center for Human Genetics Cliniques Universitaires Saint Luc Familial hypercholesterolemia (APOB, LDLR, PCSK9) that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/Belgium.png.pagespeed.ce.T9_KUy1C9-.png)
Invitae Familial Hypercholesterolemia Panel Panel
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By Invitae Invitae Familial Hypercholesterolemia Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Hypercholesterolemia Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hypobetalipoproteinemia Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypobetalipoproteinemia that also includes the following genes: PCSK9 ANGPTL3 MTTP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel Panel
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By Integrated Genetics Westborough Integrated Genetics Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel that also includes the following genes: PCSK9 APOC3 LDLR PON2
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia Profile Panel
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By Integrated Genetics Westborough Integrated Genetics Familial Hypercholesterolemia Profile that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
PCSK9 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia (FH) Panel Panel
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By Quest Diagnostics Nichols Institute San Juan Capistrano Familial Hypercholesterolemia (FH) Panel that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia (FH), Single Site Panel
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By Quest Diagnostics Nichols Institute San Juan Capistrano Familial Hypercholesterolemia (FH), Single Site that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Hyperlipidemia Core Panel Panel
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By Blueprint Genetics Hyperlipidemia Core Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Hyperlipidemia Panel Panel
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By Blueprint Genetics Hyperlipidemia Panel that also includes the following genes: ABCG5 ABCG8 LMF1 APOA5 LDLRAP1 CREB3L3 PCSK9 GPIHBP1 ALMS1 APOC2
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Genetic Study of Familial Hypercholesterolemia Panel
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By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 STAP1 APOE LDLR
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Familial hypercholesterolemia type 3 Panel
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By Bioarray
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial hypobetalipoproteinemia Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial Hypercholesterolemia NGS and Deletion/Duplication Panel Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hypercholesterolemia NGS and Deletion/Duplication Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hypercholesterolemia, Autosomal Dominant NGS Panel that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
PCSK9 Gene Sequencing and Deletion/Duplication Analysis Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/United-states.png)
iGene Cardiac Panel Panel
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By ApolloGen, Inc. iGene Cardiac Panel that also includes the following genes: RYR2 SCN5A TNNI3 TNNT2 TPM1 TTN ACTC1 PCSK9 COL3A1 DSG2
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Familial Hypercholesterolemia that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Familial Hypercholesterolemia Panel
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By Color Familial Hypercholesterolemia that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
FAMILIAL HYPERCHOLESTEROLEMIA Panel
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By Laboratorio de Genetica Clinica SL FAMILIAL HYPERCHOLESTEROLEMIA that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 LDLR
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
FAMILIAL HYPOBETALIPOPROTEINEMIA Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA that also includes the following genes: PCSK9 ANGPTL3 MTTP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 ANGPTL3 LDLR MTTP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial Hypercholesterolemia , Sequencing PCSK9 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics Familial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: PCSK9 ANGPTL3 MTTP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hypercholesterolemia, autosomal dominant, 3 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Labor Dr. Wisplinghoff
This panel specifically test the PCSK9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Phosphorus Familial Hypercholesterolemia Panel Panel
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By Phosphorus Diagnostics LLC Phosphorus Familial Hypercholesterolemia Panel that also includes the following genes: LDLRAP1 PCSK9 LDLR
More info about this panel![](/img/flags/United-states.png)
Tempus xO assay Panel
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By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel![](/img/flags/United-states.png)
Familial Hypercholesterolemia: gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hypercholesterolemia: gene sequencing panel that also includes the following genes: PCSK9 LDLR
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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