Diagnosis

Healthcare providers play a key role

Early detection of FH is important

FH may be present in patients with:

a confirmed genetic FH variant in the family (in the first or second degree)
significantly elevated LDL cholesterol and/or
a strong family history of cardiovascular disease and/or
FH stigmata such as arcus lipoides, tendon xanthomas, and xanthalasmata.

The DLCN score ( see diagnostic tools) is used as a guideline (deviations are possible) for ordering DNA testing (via this request form), and this applies in cases where

a score of 6 or higher (according to the scale) and/or
a confirmed genetic FH variant in the family (in the first or second degree)

DNA testing conducted by Amsterdam UMC makes it possible to diagnose FH with certainty and is of great importance for family screening and treatment.

1 in 300 people has FH

Family members have a 50% chance of having FH

FH is highly treatable

Testing for FH can be done as early as birth

Family members of FH patients can get tested for free

With FH, you can easily get insurance

Elevated Lp(a) is also an important risk factor

DNA Testing (2 types)

Comprehensive DNA panel testing (no known genetic FH variant in the family)
Targeted DNA testing (family history testing, known genetic FH variant in the family).

See below for pricingandprivacy information.

Step 2: Fill out the application form

The healthcare provider and patient complete the application form. The application form consists of a questionnaire for the physician and aninformed consent form for the patient. The informed consent form allows Amsterdam UMC to share your data and test results with the LEEFH Foundation. It is important that both forms are completed and signed.

Step 3: Blood draw and results

The patient then goes to a blood collection lab in the area to have blood drawn. The blood sample and the request form are sent to Amsterdam UMC (the address is listed on the request form) by the phlebotomy lab. Upon receipt of the request, the LEEFH database can determine the presence or absence of a known FH genetic variant in the family. This allows us to avoid unnecessary extensive (panel) DNA testing.The requesting healthcare provider receives the results from Amsterdam UMC.

Request Terms and Conditions: Clinical Genetics Laboratories

Step 4: Family history

If test results confirm a family history of FH, LEEFH will contact the patient to arrange a family screening.