According to a recent article in Check Orphan, genetic and biochemical testing are combined in a new method of metabolic testing called the CentoMetabolic panel.
The announcement comes from Centogene, a German company that is considered to be a leader in the field of genetic diagnostics for rare diseases.
About the CentoMetabolic Panel
The common process of diagnosing a genetic disorder involves analyzing multiple genes in accordance with a person’s genetic makeup and environment. This involves the observable characteristics of a person such as hair color, height, skin color, and behavior. In general, a comprehensive metabolic panel is a blood test that measures electrolyte and fluid balance, glucose levels, liver, and kidney function.
The CentoMetabolic panel involves about 166 genes. It was designed to diagnose complex symptoms that overlap (identified with more than one disease) as well as metabolic disorders (clusters of conditions e.g. abnormal cholesterol, triglycerides, blood pressure, etc).
Some of the many features of the CentoMetabolic panel includes expedited results to address the needs of the critically ill. It also includes a select group of up-to-date biomarkers and, when applicable, a test of enzyme activity.
About Genetic Metabolic Disorders
The code that produces an enzyme usually occurs on a pair of genes. People who have metabolic disorders inherit two defective genes, one from each parent. Their parents each carry one of the defective genes but their normal gene copy compensates so that they usually have adequate enzyme levels. This allows them to evade any symptoms of a genetic disorder.
On the other hand, their child develops the disease through a form of genetic transmission called autosomal recessive inheritance.
Centogene’s focus is on finding medical solutions for rare diseases by utilizing a wealth of genetic, biochemical and clinical data. Centogene offers rapid testing and accurate diagnosis. The company, having gained worldwide experience in the field, is dedicated to helping patients who have rare diseases.