Symptoms and Testing information for BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test

Symptoms and Testing information for BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test

Maple Syrup Urine Disease (MSUD) Type 1b is a rare but serious inherited condition, characterized by the body’s inability to break down certain parts of proteins known as branched-chain amino acids. This condition is named after the distinctive sweet odor of affected infants’ urine, reminiscent of maple syrup. The disease results from mutations in the […]

Symptoms and Testing information for DBT Gene Maple Syrup Urine Disease Type 2 Genetic Test

Symptoms and Testing information for DBT Gene Maple Syrup Urine Disease Type 2 Genetic Test

Maple Syrup Urine Disease (MSUD) is a rare but serious inherited condition that affects the body’s ability to process certain amino acids, leading to a buildup of these substances in the body. This condition gets its name from the distinctive sweet odor of affected infants’ urine, reminiscent of maple syrup. Type 2 MSUD, specifically related […]

Symptoms and Testing information for MEFV Gene Mediterranean Fever Genetic Test

Symptoms and Testing information for MEFV Gene Mediterranean Fever Genetic Test

Symptoms of MEFV Gene Mediterranean Fever Genetic Test Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder that affects individuals of Mediterranean and Middle Eastern descent. It is caused by mutations in the MEFV gene, which plays a crucial role in the body’s immune response. Understanding the symptoms of FMF is essential for early diagnosis […]

Symptoms and Testing information for HADHA Gene Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test

Symptoms and Testing information for HADHA Gene Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test

Symptoms of HADHA Gene Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test Understanding the genetic basis of metabolic disorders is crucial for early diagnosis and management. One such condition, Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, is a rare metabolic disorder affecting the body’s ability to oxidize fatty acids into energy. This condition is caused by mutations in the […]

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