MOLECULAR STUDY FAMILIAL HYPERCHOLESTEROLEMIA (LDLR, PCSK9, LDLRAP1, APOB (exon 26)) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3901

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Familial hypercholesterolaemia (FH) is a hereditary dyslipidaemia characterised by a permanent and isolated elevation in circulating low-density lipoprotein (LDL) levels. FH is often transmitted as a codominant trait and two clinical forms have been described. The heterozygous form is often clinically silent and may be diagnosed at any age following a complete lipid analysis (carried out after a period of fasting of over 12 hours) and diagnostic scores based on familial history (over three or more generations) or a personal history of coronary artery disease, extravascular deposits and isolated hypercholesterolaemia that does not respond to a lipid-controlled diet. The severe homozygous form is very rare with onset in the first two years of life and is characterised by extravascular cholesterol deposits (cutaneous or tendon xanthomas), LDL levels and an arteriopathy (aortic stenosis, coronary artery disease) manifesting before 10 years of age. Recessively inherited hypercholesterolaemia (less than 20 cases reported so far) is characterised by xanthomas and/or atherosclerosis in children with severe hypercholesterolaemia born to parents with normal lipid levels. For the dominant forms, mutations have been identified in the following genes: LDLR (responsible for between 2/3 and 3/4 of dominantly inherited cases), APOB and PCSK9. For the recessive forms, causative mutations have been identified in the LDLRAP1 and ABCG5/ABCG8 genes. Due to the high risk of cardiovascular disease, the diagnosis of HF in an individual should lead to investigation and management of the whole family.
Links:
OMIM Entry - #143890 - HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM Entry - #144010 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
OMIM Entry - #603776 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
OMIM Entry - #603813 - HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
Orphanet- Familial hypercholesterolemia
OMIM Entry - +107730 - APOLIPOPROTEIN B; APOB
OMIM Entry - -605747 - LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1
OMIM Entry - -606945 - LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
OMIM Entry - -607786 - PROPROTEIN CONVERTASE, SUBTILISIN-KEXIN-TYPE, 9; PCSK9

   Find the record of the test by clicking here