Familial Hypercholesterolemia (FH) analysis

Familial Hypercholesterolemia (FH) analysis service

MAF offers a genetic testing for Familial Hypercholesterolemia (FH).

The MAF’s FH genetic analysis involves two phases: The first entails the use of a mutation analysis panel using Agena MassARRAY system and iPLEX Gold chemistry (accredited according to ISO/IEC 17025 by SWEDAC). Samples for which no mutations are found are analyzed using Devyser’s FH v2 amplicon sequencing methodology using Illumina MiSeq instrument. Findings from the latter analysis, which indicate the presence of a pathogenic variation, are confirmed with Sanger sequencing by an external partner to MAF. This external partner meets all essential regulatory standards for analysis and calibration laboratories according to DIN EN ISO/IEC 17025, as well as ISO 9001 – The Global Quality Management Standard.

SNP panel test
The Karolinska FH panel investigates 113 known mutations and deletions in the three most important FH genes, LDLR, PCSK9 and APOB using the Agena MassARRAY system and iPLEX Gold chemistry. The method performed is accredited according to ISO/IEC 17025 by SWEDAC.

The current FH genotyping panel (FH_FM1) consists of:


Gene Number of mutations
LDLR 104

The FH panel has been developed by MAF and it has been successfully validated in collaboration with another Swedish laboratory using samples with known mutations and a proficiency test by the European Molecular Genetics Quality network. With the current design, the panel detects at least one mutation in 60% of the cases with definitive/probable FH according to the Dutch Lipid Clinic Network diagnostic criteria.

Amplicon sequencing test
Devyser’s FH kit enables analysis of sequence variants associated with Autosomal Dominant Hypercholesterolemia. Specifically, the assay detects substitutions and INDELS in exons and intron-exon boundaries of the following genes:

LDLR (NM_000527.4) exon 1-18
PCSK9 (NM_174936.3) exon 1-12
APOB (NM_000384.3) exon 26-29


The sample may be blood or DNA. The referral must contain a separate sample_id (for example personal id number). The sample tube is labelled with the sample_id.
Blood: 2 x EDTA purple-top tube 4-7 mL or DNA: >3ug


The sample together with the filled referral can be sent by regular mail, at room temperature.

Samples are sent to:

Karolinska University Hospital Huddinge
Mutation Analysis Facility, MAF
Attention: Mosekunola Oladapo
KFC, Novum plan 5, F
Hälsovägen 7-9
141 57 Huddinge

Please contact us to inquire about prices.

Kristina Duvefelt, PhD (Lab Manager)
Tel: +46 8 5858 3693
email: Kristina.Duvefelt@ki.se

Mosekunola Oladapo (FH coordinator)
Tel: +46 8 5858 1991
email: Mosekunola.Oladapo@ki.se