Hyperlipidemia is a set of metabolic disorders that can be genetic or acquired that are characterized by excess lipids in the blood which can include cholesterol and/or triglycerides. This excess causes increased fatty acid deposition which leads to blockages in the arteries. This, in turn can lead to the development of atherosclerotic plaques throughout the body and subsequent vascular disease. Genetic hyperlipidemia is mostly inherited in an autosomal dominant manner but can also be inherited in an autosomal recessive pattern. Hyperlipidemia is a general term used to identify a disease associated with excess lipids and/or fats in the body and hypercholesterolemia is one of the most common forms of hyperlipidemia.
The Igenomix Hyperlipidemia Precision Panel can be used to make a directed and accurate differential diagnosis of excess lipids ultimately leading to a better management and prognosis of the disease and its outcomes. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The Igenomix Hyperlipidemia Precision Panel is indicated for those patients with clinical suspicion of inherited hyperlipidemia presenting with the following manifestations:
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ABCA1 | Apolipoprotein A-I Deficiency, Familial HDL Deficiency, Tangier Disease | AD,AR | 100% | 238 of 241 |
ABCG5 | Homozygous Familial Hypercholesterolemia | – | 99.81% | 57 of 57 |
ABCG8 | Gallbladder Disease, Homozygous Familial Hypercholesterolemia, Sitosterolemia | AR,MU,P | 100% | 64 of 64 |
ALMS1 | Alstrom Syndrome | AR | 99.92% | 302 of 305 |
APOA1 | Familial Visceral Amyloidosis, Apolipoprotein A-I Deficiency | AD | 99.89% | 68 of 70 |
APOA5 | Hyperlipoproteinemia Type V, Familial Hypertriglyceridemia | AD | 99.88% | 66 of 66 |
APOB | Homozygous Familial Hypercholesterolemia, Autosomal Dominant Hypercholesterolemia Type B, Familial Hypobetalipoproteinemia | AD,AR | 99.62% | 369 of 375 |
APOC2 | Apolipoprotein C-II Deficiency | AR | 100% | 22 of 23 |
APOC3 | Cholesterol-Ester Transfer Protein Deficiency, Hyperalphalipoproteinemia | – | 100% | 8 of 8 |
APOE | Alzheimer Disease, Dysbetalipoproteinemia, Lipoprotein Glomerulopathy, Age-Related Macular Degeneration, Sea-Blue Histiocyte Disease | AD,AR | 99.53% | 65 of 68 |
ATF6 | Achromatopsia, Cone Rod Dystrophy | AR | 99.98% | 16 of 16 |
CETP | Cholesterol-Ester Transfer Protein Deficiency, Hyperalphalipoproteinemia | AD | 100% | 52 of 54 |
CREB3L3 | Spondyloepimetaphyseal Dysplasia, Sturdwick Type, Platyspondylic Lethal Skeletal Dysplasia, Torrance Type, Autosomal Recessive Otospondylomegaepiphyseal Dysplasia | – | 100% | 12 of 12 |
FABP2 | Perinatal Necrotizing Enterocolitis, Acute Vascular Insufficiency of Intestine, Refractory Celiac Disease, Intestinal Atresia, Ileitis | – | 99.69% | NA of NA |
FOLH1 | Prostate Cancer, Canavan Disease | – | 99.63% | NA of NA |
GPIHBP1 | Hyperlipoproteinemia Type Id | AR | 100% | 35 of 36 |
LCAT | Fish-Eye Disease, Lecithin:Cholesterol Acyltransferase Deficiency | AR | 90% | 110 of 110 |
LDLR | Homozygous Familial Hypercholesterolemia | AD | 99.89% | 1921 of 1996 |
LDLRAP1 | Homozygous Familial Hypercholesterolemia | AR | 91.83% | 18 of 27 |
LEPR | Leptin Receptor Deficiency | AR | 97.92% | 49 of 49 |
LIPA | Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency, Wolman Disease | AR | 99.91% | 103 of 104 |
LMF1 | Combined Lipase Deficiency | AR | 99.80% | 34 of 36 |
LPL | Familial Combined Hyperlipidemia, Hyperlipoproteinemia Type I | AD,AR | 100% | 220 of 222 |
MADD | Multiple Acyl-CoA Dehydrogenation Deficiency | – | 99.98% | 9 of 9 |
NR1H3 | Multiple Sclerosis, Fatty Liver Disease | – | 99.87% | 1 of 1 |
PCSK9 | Homozygous Familial Hypercholesterolemia | AD | 100% | 96 of 98 |
PLTP | Hyperalphalipoproteinemia 1, Tangier Disease | – | 100% | 1 of 1 |
PPARG | Berardinelli-Seip Congenital Lipodystrophy, Carotid Intimal Medial Thickness, Noninsulin-Dependent Diabetes Mellitus, Familial Partial Lipodystrophy Type 3, Obesity, PPARG-related Familial Partial Lipodystrophy | AD,AR,MU,P | 99.94% | 53 of 53 |
SLC25A40 | Congenital Myasthenic Syndrome | – | 99.98% | 2 of 2 |
USF1 | Familial Combined Hyperlipidemia, Cowden Syndrome | – | 100% | 1 of 1 |
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk, European Heart Journal, Volume 41, Issue 44, 21 November 2020, Page 4255, https://doi.org/10.1093/eurheartj/ehz826
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