Hereditary metabolic disorders are defined as multisystemic diseases that cover a wide spectrum of more than 1,000 different disorders. Their prevalence ranges from 1 in 200 to very rare (<1 in 1,000,000). Metabolism is the motor for all vital processes in the human body. It includes the build-up (anabolism), breakdown (catabolism), and conversion (amphibolism) of various substances that are needed to build up and maintain body tissue and generate energy.
Changes in the genes of the metabolic pathway can lead to the accumulation of metabolites, metabolic intermediates, or toxic substances, the production of unusual metabolites, or the defective transport of certain substances. This can cause a variety of symptoms which usually manifest shortly or within weeks after birth. However, they can also progress slowly over the years and develop later in life.
Our tests combine biochemical tests and gene tests (single-gene, gene panels and a comprehensive panel) associated with many different metabolic disorders, providing a complete diagnostic solution.
Genetic testing can help to uncover the cause of persistent and/or debilitating symptoms. Identifying the disease-causing variant can help to decide on an appropriate and essential treatment that can prevent or reduce symptoms, avoid chronic health consequences and improve quality of life.
IMPORTANCE OF GETTING TESTED
The wide spectrum of symptoms and the varying age of onset make diagnosing a metabolic disorder challenging and time-consuming. Genetic testing can detect genetic changes, thereby, helping to identify metabolic diseases. Based on the diagnosis, appropriate treatment and clinical management can be chosen and a prognosis can be estimated. Additionally, family members can be tested.
You have common symptoms
of a metabolic disease
You have a spectrum of
overlapping symptoms that
vary in age of onset and severity
You have neurological symptoms
that haven’t improved
with routine therapies
You have a family history
of a metabolic disease
Your newborn has abnormal
newborn screening results
We offer a comprehensive solution combining biochemical tests and genetic tests.
CLINICAL LAB TESTS
Basic laboratory, including blood pressure, blood sugar, cholesterol, triglyceride levels, blood gas analysis (BGA), including pH, glucose, lactate, blood ammonia, urinary ketones, liver enzymes, etc.
Specific laboratory for metabolic disease, including amino acids in serum, organic acids in urine, acylcarnitine, and enzyme functional assays.