We offer genetic testing and comprehensive interpretation of results in the following areas: 

• Familial hypercholesterolemia
• Familial hypocalciuric hypercalcemia (FHH) and familial isolated hypoparathyroidism (FIH)
• Homocystinuria (cystathionine beta synthase deficiency or CBS deficiency)

We work with cardiologists, endocrinologists and clinicians specialised in blood clotting disorders to deliver state-of-the-art testing and interpretation. 

The genetic tests are accredited by DANAK (The Danish Accreditation Fund) according to the ISO 15189 standard. We participate in proficiency testing for the analyses and methods employed.

Research projects include:

• Characterisation of a large cohort of patients with hereditary hyper- and hypocalcemia
• Sudden unexpected death with a focus on atherosclerosis and familial hypercholesterolemia

Further information:
Please contact consultant, MD, PhD Søren Ladefoged: soerelade@rm.dk Tel +45 4046 5965.