Symptoms and Testing information for ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 Genetic Test

Symptoms and Testing information for ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 Genetic Test

Understanding the symptoms and underlying genetic causes of certain diseases is crucial for effective diagnosis and management. Among these, Cholestasis of benign recurrent intrahepatic type 2, caused by mutations in the ABCB11 gene, is a condition that requires particular attention. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing accurate […]

Symptoms and Testing information for ATP8B1 Gene Cholestasis intrahepatic of pregnancy type 1 Genetic Test

Symptoms and Testing information for ATP8B1 Gene Cholestasis intrahepatic of pregnancy type 1 Genetic Test

In the complex and ever-evolving field of genetics, understanding the intricate details of specific conditions can be a gateway to tailored healthcare and improved outcomes. Among these conditions, intraheptic cholestasis of pregnancy (ICP) stands out due to its potential impact on pregnant individuals and their unborn children. The ATP8B1 gene cholestasis intrahepatic of pregnancy type […]

Symptoms and Testing information for LIPA Gene Cholesteryl ester storage disease Genetic Test

Symptoms and Testing information for LIPA Gene Cholesteryl ester storage disease Genetic Test

Cholesteryl ester storage disease (CESD) is a rare genetic disorder that affects the body’s ability to break down cholesterol and triglycerides. This condition is caused by mutations in the LIPA gene, which plays a crucial role in the lysosomal degradation of lipids. Individuals with CESD accumulate large amounts of cholesteryl esters and triglycerides in various […]

Symptoms and Testing information for SAR1B Gene Chylomicron retention disease Genetic Test

Symptoms and Testing information for SAR1B Gene Chylomicron retention disease Genetic Test

Chylomicron retention disease, also known as Anderson’s disease or Hypobetalipoproteinemia Type 1, is a rare genetic disorder that affects the body’s ability to absorb fats and certain vitamins from the diet. This condition is caused by mutations in the SAR1B gene, which plays a crucial role in the assembly and secretion of chylomicrons, particles that […]

Symptoms and Testing information for BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test

Symptoms and Testing information for BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test

Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a rare genetic disorder that impacts the body’s ability to properly process certain amino acids found in proteins. This condition can lead to a range of symptoms, varying in severity from mild to severe, and can affect individuals differently. Understanding the symptoms and the availability of genetic testing […]

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