IllnessHyperlipidaemias/Dyslipidaemias, familial; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for familial Hyperlipidemia comprising 13 guideline-curated and altogether 22 curated genes according to the clinical signs

HP0720

Number of genes

22 Accredited laboratory test

Examined sequence length

32,7 kb (Core-/Core-canditate-Genes)
48,1 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ABCA1	6786	600046	NM_005502.4	AR
APOA5	1101	606368	NM_052968.5	AD, AR
APOB	13692	107730	NM_000384.3	AD, AR
APOC2	306	608083	NM_000483.5	AR
CREB3L3	1386	611998	NM_032607.3	AD
GPD1	1050	138420	NM_005276.4	AR
GPIHBP1	555	612757	NM_178172.6	AR
LDLR	2583	606945	NM_000527.5	AD
LMF1	1704	611761	NM_022773.4	AR
LPL	1428	609708	NM_000237.3	AD, AR
PCSK9	2079	607786	NM_174936.4	AD
ABCG5	1956	605459	NM_022436.3	AR
ABCG8	2022	605460	NM_022437.3	AR
APOE	954	107741	NM_000041.4	AD, AR
CETP	1482	118470	NM_000078.3	AD
CYP27A1	1596	606530	NM_000784.4	AR
CYP7A1	1515	118455	NM_000780.4	AR
LCAT	1323	606967	NM_000229.2	AR
LDLRAP1	927	605747	NM_015627.3	AR
LIPA	1200	613497	NM_000235.4	AR
LIPC	1500	151670	NM_000236.3	AR
USF1	933	191523	NM_007122.5	AD

Informations about the disease

Clinical Comment

Hyperlipidemia involves an imbalance of cholesterol levels, including low-density lipoprotein cholesterol (LDL-C) + high-density lipoprotein cholesterol (HDL-C) in blood

Synonyms

Alias: Familial hyperlipidemia
Alias: Rare hyperlipidemia
Allelic: Alzheimer disease 2 (APOE)
Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch APOE)
Allelic: Diabetes mellitus, noninsulin-dependent (LIPC)
Allelic: Gallbladder disease 4 (ABCG8)
Allelic: Hypobetalipoproteinemia (APOB)
Allelic: Sea-blue histiocyte disease (APOE)
Cerebrotendinous xanthomatosis (CYP27A1)
Cholesteryl ester storage disease (LIPA)
Combined hyperlipidemia, familial (LPL)
Coronary artery disease, severe, susceptibility to (APOE)
Familial combined hyperlipoproteinaemia, inherited mixed hyperlipidaemias [panelapp] (USF1)
Fish-eye disease (LCAT)
HDL deficiency, familial, 1 (ABCA1)
Hepatic lipase deficiency (LIPC)
High density lipoprotein cholesterol level QTL 10 (CETP)
High density lipoprotein cholesterol level QTL 11 (LPL)
High density lipoprotein cholesterol level QTL 12 (LIPC)
Hyperalphalipoproteinemia (CETP)
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (CYP7A1)
Hypercholesterolemia, familial, 1 (LDLR)
Hypercholesterolemia, familial, 2 (APOB)
Hypercholesterolemia, familial, 3 (PCSK9)
Hypercholesterolemia, familial, 4 (LDLRAP1)
Hyperchylomicronemia, late-onset (APOA5)
Hyperlipidemia, familial combined, susceptibility to (USF1)
Hyperlipoproteinemia, type 1D (GPIHBP1)
Hyperlipoproteinemia, type III (APOE)
Hyperlipoproteinemia, type Ib (APOC2)
Hypertriglyceridemia 2 (CREB3L3)
Hypertriglyceridemia disease [MONDO:0005347] (LIPI)
Hypertriglyceridemia, susceptibility to (APOA5)
Hypertriglyceridemia, transient infantile (GPD1)
LDL cholesterol level QTL2 (LDLR)
Lipase deficiency, combined (LMF1)
Lipoprotein glomerulopathy (APOE)
Lipoprotein lipase deficiency (LPL)
Low density lipoprotein cholesterol level QTL 1 (PCSK9)
Macular degeneration, age-related (APOE)
Monogenic dominant hypertriglyceridemia associated with (CREB3L3)
Norum disease (LCAT)
Sitosterolemia 1 (ABCG8)
Sitosterolemia 2 (ABCG5)
Tangier disease (ABCA1)
Wolman disease (LIPA)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined