Inborn Errors of Metabolism

We are specialized in the diagnosis of Inborn Errors of Metabolism. These disorders are very rare and often hard to be diagnosed. We have established special blood tests to quickly provide reliable laboratory results. These include:

• Lysosomal Storage Disorders: Morbus Pompe, Mucopolysaccharidosis Type I, II, IVa, VI, Fabry, Gaucher and Krabbe disease
• Amino acid and acylcarnitine profiles  for Aminoacidurias, Organoacidurias and Fatty Oxidation Metabolism (from DBS)
• Methylmalonic acid (from serum/plasma/urine) and Homocystein (from serum/plasma/DBS)

See also our special program for Baby´s Health below.

Babies’ Health

Since decades, the early detection of various Inborn Errors of Metabolism such as Phenylketonuria (or known as PKU) and many other diseases soon after birth can help to prevent serious problems, such as brain damage and organ damage or even death.

Supplemental Newborn Screening

We offer supplemental blood tests in addition to public newborn screening programs such as:

• T-cell Receptor Excision circles (TRECs) testing as a marker for Severe Combined Immunodeficiency (SCID). TRECs are stable and can be measured on the dried blood spots routinely collected from babies. SCID is a group of disorders characterized by a severe defect in T cell production and function, such that affected infants die of infections by the age of two unless immunity is reconstituted by special treatment.
• enzyme activity testing for Lysosomal Storage Disorders: We offer a special blood test for infantile Pompe, Mucopolysaccharidosis Type I, II, IVa, VI, Fabry, Gaucher and Krabbe disease.

When is the best time to test the baby?
The blood sample for the Newborn Screening should be taken shortly after birth by your pediatrician.

How is the test performed?
The blood sample is taken via a heel prick using a Dried Blood Spot card. Only a few drops of blood are needed.

Please contact your pediatricians on time to receive additional Newborn Screening tests by ARCHIMEDlife for your baby.

Oncogenetics

Inherited Cancer

Some people have an inherited mutation in a cancer gene that increases their risk of developing particular types of cancer. Cancers due to inherited mutations are much less common than sporadic cancers (estimated 3%). The more relatives who have had the same or related types of cancer, and the younger they were at diagnosis, the stronger someone’s family history is. We offer genetic testing for all known cancer genes. Your counselor can choose the relevant disease genes depending on your personal history.

Cancer Personalized Medicine

The discovery of molecular mechanisms for tumor growth and metastasis formation has opened an abundance of therapeutic options, which have led to improved prognosis in many types of cancer. We are characterizing the individual tumor´s profile for treatment stratification. Ultra deep genetic analysis allows evaluation of therapeutic success and therapy monitoring.

Clinical Chemistry

We test different parameters in blood and urine samples. We are currently offering: