IllnessHyperlipidemia, combined; differential diagnosis

Summary

Short information

Comprehensive panel for Hyperlipidemia, combined; differential diagnosis, containing 7 guideline-curated core and core candidate genes As well as altogether 12 curated genes according to the clincal suspicion

HP6189

Number of genes

8 Accredited laboratory test

Examined sequence length

10,0 kb (Core-/Core-canditate-Genes)
- (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
APOA5	1101	606368	NM_052968.5	AD, AR
APOC3	300	107720	NM_000040.3	AD
APOE	954	107741	NM_000041.4	AD, AR
GPIHBP1	555	612757	NM_178172.6	AR
LDLR	2583	606945	NM_000527.5	AD
LPL	1428	609708	NM_000237.3	AD, AR
PCSK9	2079	607786	NM_174936.4	AD
USF1	933	191523	NM_007122.5	Sus

Informations about the disease

Synonyms

Alias: Mixed hyperlipidemia
Alias: Rare hyperlipidemia
Allelic: Alzheimer disease 2 (APOE)
Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch APOE)
Allelic: Ezetimibe, nonresponse to (NPC1L1)
Allelic: Hypobetalipoproteinemia (APOB)
Allelic: Sea-blue histiocyte disease (APOE)
Apolipoprotein C-III deficiency (APOC3)
Combined hyperlipidemia, familial (LPL)
Coronary artery disease, severe, susceptibility to (APOE)
Familial combined hyperlipoproteinaemia, inherited mixed hyperlipidaemias [panelapp] (USF1)
High density lipoprotein cholesterol level QTL 11 (LPL)
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, susceptibility to (APOA5)
LDL cholesterol level QTL2 (LDLR)
Lipoprotein glomerulopathy (APOE)
Lipoprotein lipase deficiency (LPL)
Low density lipoprotein cholesterol level QTL 1 (PCSK9)
Low density lipoprotein cholesterol level QTL 6 (SORT1)
Low density lipoprotein cholesterol level QTL 7 (NPC1L1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

E78.2

Bioinformatics and clinical interpretation

No text defined