Symptoms and Testing information for LDHB Gene Lactate Dehydrogenase-B Deficiency Genetic Test

Symptoms and Testing information for LDHB Gene Lactate Dehydrogenase-B Deficiency Genetic Test

Understanding LDHB Gene Lactate Dehydrogenase-B Deficiency Lactate dehydrogenase-B (LDHB) deficiency is a rare genetic condition that can affect various aspects of an individual’s health. This condition arises from mutations in the LDHB gene, which plays a crucial role in the body’s metabolic process. Lactate dehydrogenase is an enzyme involved in converting lactate to pyruvate, a […]

Symptoms and Testing information for CNNM2 Gene Hypomagnesemia Type 6 Genetic Test

Symptoms and Testing information for CNNM2 Gene Hypomagnesemia Type 6 Genetic Test

Understanding the symptoms of CNNM2 gene hypomagnesemia type 6 is crucial for early diagnosis and effective management of this condition. Hypomagnesemia refers to lower than normal levels of magnesium in the blood, a vital mineral that plays a key role in numerous bodily functions, including muscle and nerve function, blood sugar control, and blood pressure […]

Symptoms and Testing information for ALPL Gene Hypophosphatasia Adult Genetic Test

Symptoms and Testing information for ALPL Gene Hypophosphatasia Adult Genetic Test

Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by defective bone mineralization and deficiency of the enzyme tissue non-specific alkaline phosphatase (TNSALP), caused by mutations in the ALPL gene. This condition can manifest in various forms, from severe symptoms noticed in infancy to milder symptoms that may not become apparent until adulthood. In […]

Symptoms and Testing information for ALPL Gene Hypophosphatasia Childhood Genetic Test

Symptoms and Testing information for ALPL Gene Hypophosphatasia Childhood Genetic Test

In the realm of genetic testing and diagnostics, understanding the genetic underpinnings of various diseases is paramount. One such condition that has garnered attention for its impact on children is Hypophosphatasia (HPP), a rare genetic disorder affecting the development of bones and teeth. This condition is primarily caused by mutations in the ALPL gene, which […]

Symptoms and Testing information for ALPL Gene Hypophosphatasia Infantile Genetic Test

Symptoms and Testing information for ALPL Gene Hypophosphatasia Infantile Genetic Test

Symptoms of ALPL Gene Hypophosphatasia Infantile Genetic Test Hypophosphatasia (HPP) is a rare, inherited disorder that affects the development of bones and teeth. This condition is caused by mutations in the ALPL gene, which plays a crucial role in bone mineralization. The severity and symptoms of HPP can vary widely among affected individuals. The infantile […]

Symptoms and Testing information for SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test

Symptoms and Testing information for SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test

Understanding the intricate workings of our genetic makeup can lead to significant insights into various health conditions that affect individuals from birth. One such condition is Hypophosphatemic Rickets with Hypercalciuria (HHRH), caused by mutations in the SLC34A3 gene. This condition is a rare but severe disorder that affects the bones, leading to rickets in children […]

Symptoms and Testing information for AGXT Gene Hyperoxaluria Type 1 Genetic Test

Symptoms and Testing information for AGXT Gene Hyperoxaluria Type 1 Genetic Test

Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder that affects the body’s ability to properly metabolize oxalate, a substance found in many foods. This condition leads to the overproduction of oxalate, which can combine with calcium to form calcium oxalate crystals. These crystals can accumulate in the kidneys and urinary tract, leading to […]

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