Molecular Genetic Testing
Familal Hypercholesterolemia (FH)

Indication and Diagnostic Value

With 1 out of 500 individuals in the population FH represents the most common hereditary metabolic disorder.
The following criteria are recommended in order to select persons at risk:

• Total cholesterol level > 7,0 mmol/l or LDL > 4.5 mmol/l plus
at least one 1 family member with heart attack younger 60
years, or, alternatively family members with total cholesterol
levels > 7,0 mmol/l.
• For children younger 16 years an indication for FH is given if
total cholesterol and LDL exceed 6,7 and 4,0 mmol/l,
respectively.

FH can be treated efficiently and should therefore be analyzed as early as possible. The only method to discriminate between a sporadic and an inborn form of hypercholesterolemia is the genetic test. The FH - test IMMD provides involves mutation screening of the LDL-receptor gene and of apolipoprotein B gene. The risk to die from arteriosclerosis is 4fold higher for FH patients if compared to the average population. At the age of 50 almost 30% of the FH patients suffer from arteriosclerosis and heart diseases, at the age of 60 more than 50% have symptoms for coronary insufficiency. 20 % of all infarct patients have FH.

Samples and Test Method

EDTA blood is required. The techniques used are Fluorescence Conformation Sensitive Gel Electrophoresis (CSGE) on an ABI 377, or Denaturating High Pressure Liquid Chromatography (DHPLC) by WAVE, followed by sequencing gene fragments harboring putative mutations in order to exactly determine the DNA sequence of each of the mutation. The test sensitivity is 95-98%.

Turnaround time for this test is 4 – 6 weeks.

→ list of Molecular Genetic Tests offered by IMMD


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