Symptoms and Testing information for GALK1 Gene Galactokinase deficiency Genetic Test

Symptoms and Testing information for GALK1 Gene Galactokinase deficiency Genetic Test

In the intricate world of genetics, understanding the nuances of various genetic conditions is pivotal for early diagnosis and management. One such condition that has garnered attention in the medical community is Galactokinase deficiency, caused by mutations in the GALK1 gene. This article aims to shed light on the symptoms associated with this genetic disorder […]

Symptoms and Testing information for FANCM Gene Fanconi anemia type M Genetic Test

Symptoms and Testing information for FANCM Gene Fanconi anemia type M Genetic Test

Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. Among the genes associated with this condition, the FANCM gene is noteworthy for its role in DNA repair. Individuals carrying mutations in the FANCM gene can develop Fanconi anemia type M, a specific subtype of the disease. DNA Labs UAE […]

Symptoms and Testing information for GALE Gene Galactose epimerase deficiency Genetic Test

Symptoms and Testing information for GALE Gene Galactose epimerase deficiency Genetic Test

— Galactose epimerase deficiency is a rare genetic disorder that affects how the body processes the simple sugar galactose, which is found in many foods, most notably dairy products. This condition falls under the umbrella of galactosemia, which encompasses several genetic disorders involving the metabolism of galactose. The GALE gene is responsible for producing the […]

Symptoms and Testing information for PALB2 Gene Fanconi anemia type N Genetic Test

Symptoms and Testing information for PALB2 Gene Fanconi anemia type N Genetic Test

Fanconi anemia is a rare genetic disorder that affects the bone marrow, leading to decreased production of all types of blood cells. One of the genes associated with this condition is the PALB2 gene. Mutations in the PALB2 gene can lead to Fanconi anemia type N, a subtype of this broader condition. Understanding the symptoms […]

Symptoms and Testing information for SLX4 Gene Fanconi anemia type P Genetic Test

Symptoms and Testing information for SLX4 Gene Fanconi anemia type P Genetic Test

Symptoms of SLX4 Gene Fanconi Anemia Type P Fanconi Anemia (FA) is a rare genetic disorder that affects the bone marrow, leading to decreased production of all types of blood cells. FA is known for its genetic heterogeneity, with mutations in various genes being implicated in its cause. One such gene is the SLX4 gene, […]

Symptoms and Testing information for XRCC2 Gene Fanconi anemia XRCCR2 related Genetic Test

Symptoms and Testing information for XRCC2 Gene Fanconi anemia XRCCR2 related Genetic Test

In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of our genetic makeup is more important than ever. Among the myriad of genetic conditions that researchers and clinicians are keen to unravel, Fanconi Anemia stands out, particularly its rare variant associated with mutations in the XRCC2 gene. DNA Labs UAE, a leading […]

Symptoms and Testing information for SLC2A2 Gene Fanconi-Bickel syndrome Genetic Test

Symptoms and Testing information for SLC2A2 Gene Fanconi-Bickel syndrome Genetic Test

Fanconi-Bickel syndrome (FBS) is a rare genetic disorder that impacts the body’s ability to properly metabolize glucose, leading to a range of symptoms and health complications. This condition is caused by mutations in the SLC2A2 gene, which plays a critical role in glucose transport within the body. Recognizing the symptoms of Fanconi-Bickel syndrome is crucial […]

Symptoms and Testing information for ASAH1 Gene Farber disease Genetic Test

Symptoms and Testing information for ASAH1 Gene Farber disease Genetic Test

Symptoms of ASAH1 Gene Farber Disease Farber disease, also known as Farber’s lipogranulomatosis, is a rare genetic disorder that affects the body’s ability to break down certain fats. This condition is caused by mutations in the ASAH1 gene, leading to the accumulation of fats in the joints, tissues, and central nervous system. The symptoms of […]

Symptoms and Testing information for G6PD Gene Favism susceptibility to Genetic Test

Symptoms and Testing information for G6PD Gene Favism susceptibility to Genetic Test

G6PD deficiency, also known as Favism, is a genetic condition that affects millions of people worldwide. It is particularly prevalent in regions such as Africa, the Mediterranean, and Southeast Asia. This condition leads to a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD), which is crucial for the proper functioning of red blood cells. As a […]

Symptoms and Testing information for FANCB Gene Fanconi anemia type B Genetic Test

Symptoms and Testing information for FANCB Gene Fanconi anemia type B Genetic Test

Fanconi anemia is a rare, inherited blood disorder that leads to bone marrow failure. It is caused by genetic mutations that affect the body’s ability to repair DNA. There are several types of Fanconi anemia, each associated with mutations in different genes. Type B Fanconi anemia is specifically linked to mutations in the FANCB gene. […]

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