Symptoms and Testing information for FANCD2 Gene Fanconi anemia type D2 Genetic Test

Symptoms and Testing information for FANCD2 Gene Fanconi anemia type D2 Genetic Test

Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. The FANCD2 gene plays a critical role in the FA pathway, a cellular defense system against DNA damage. Mutations in the FANCD2 gene can cause Fanconi anemia type D2, one of the more severe forms of the disease. Recognizing the […]

Symptoms and Testing information for FANCE Gene Fanconi anemia type E Genetic Test

Symptoms and Testing information for FANCE Gene Fanconi anemia type E Genetic Test

Fanconi anemia is a rare genetic disorder that affects the bone marrow, leading to decreased production of all types of blood cells. Among the various types of Fanconi anemia, type E, caused by mutations in the FANCE gene, is one of the less common subtypes. Recognizing the symptoms associated with this condition is crucial for […]

Symptoms and Testing information for DPYD Gene Dihydropyrimidine dehydrogenase deficiency Genetic Test

Symptoms and Testing information for DPYD Gene Dihydropyrimidine dehydrogenase deficiency Genetic Test

In the realm of personalized medicine, genetic testing plays a pivotal role in understanding an individual’s susceptibility to various conditions and their response to certain medications. One such critical genetic test is for DPYD gene dihydropyrimidine dehydrogenase deficiency. This deficiency can significantly impact the body’s ability to metabolize certain chemotherapy drugs, leading to severe and […]

Symptoms and Testing information for FANCF Gene Fanconi anemia type F Genetic Test

Symptoms and Testing information for FANCF Gene Fanconi anemia type F Genetic Test

Symptoms of FANCF Gene Fanconi Anemia Type F Genetic Test Fanconi Anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. It is caused by genetic mutations in one of several genes, with the FANCF gene being one such example. This condition is characterized by physical abnormalities, bone marrow failure, and […]

Symptoms and Testing information for DPYS Gene Dihydropyrimidinuria Genetic Test

Symptoms and Testing information for DPYS Gene Dihydropyrimidinuria Genetic Test

Dihydropyrimidinuria is a rare genetic disorder that affects the body’s ability to break down certain components of proteins, specifically the pyrimidine bases of uracil and thymine. This condition is caused by mutations in the DPYS gene, which is crucial for the normal function of the enzyme dihydropyrimidine dehydrogenase (DPD). DPD plays a vital role in […]

Symptoms and Testing information for FANCG Gene Fanconi anemia type G Genetic Test

Symptoms and Testing information for FANCG Gene Fanconi anemia type G Genetic Test

Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. It is caused by genetic mutations in one of at least 22 genes, with the FANCG gene being one of them. This condition is characterized by physical abnormalities, bone marrow failure, and an increased risk of cancer. Early diagnosis through […]

Symptoms and Testing information for DMGDH Gene Dimethylglycine dehydrogenase deficiency Genetic Test

Symptoms and Testing information for DMGDH Gene Dimethylglycine dehydrogenase deficiency Genetic Test

Symptoms of DMGDH Gene Dimethylglycine Dehydrogenase Deficiency Dimethylglycine Dehydrogenase (DMGDH) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain amino acids properly. This condition can lead to a variety of health issues, ranging from mild to severe. Recognizing the symptoms early can be crucial for managing the condition effectively. Some […]

Symptoms and Testing information for DYM Gene Dyggve-Melchior-Clausen disease Genetic Test

Symptoms and Testing information for DYM Gene Dyggve-Melchior-Clausen disease Genetic Test

Symptoms of DYM Gene Dyggve-Melchior-Clausen Disease Dyggve-Melchior-Clausen (DMC) disease is a rare genetic disorder that affects bone development and structure, leading to skeletal dysplasia. This condition is caused by mutations in the DYM gene, which plays a crucial role in the development and maintenance of healthy bone and cartilage. Individuals with DMC disease exhibit a […]

Symptoms and Testing information for CYP2B6 Gene Efavirenz poor metabolism of Genetic Test

Symptoms and Testing information for CYP2B6 Gene Efavirenz poor metabolism of Genetic Test

Symptoms of CYP2B6 Gene Efavirenz Poor Metabolism of Genetic Test The CYP2B6 gene plays a pivotal role in the metabolism of various substances within the body, including the antiretroviral medication, Efavirenz, which is commonly used in the treatment of HIV. Variations in the CYP2B6 gene can lead to poor metabolism of Efavirenz, resulting in higher […]

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