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Familial dyslipidemia / hypercholesterolemia: gene panel

Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Endocrinology

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM

Gene Number

27

Test / Mutation List

ABCA1, ABCG5, ABCG8, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APTX, CREB3L3, CYP27A1, EPHX2, GHR, GPD1, GPIHBP1, ITIH4, LDLR, LDLRAP1, LIPA, LIPI, LMF1, LPL, LRP6, PCSK9, PPP1R17, USF1

TAT

3 to 4 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated

For other samples types, please contact the laboratory.