Symptoms and Testing information for MYD88 Gene Pyogenic Bacterial Infections Recurrent Due to MYD88 Deficiency Genetic Test

Symptoms and Testing information for MYD88 Gene Pyogenic Bacterial Infections Recurrent Due to MYD88 Deficiency Genetic Test

In the realm of genetic testing and personalized medicine, understanding the genetic underpinnings of various diseases is crucial for effective diagnosis and treatment. One such condition that has garnered attention is the recurrent pyogenic bacterial infections caused by MYD88 deficiency. The MYD88 gene plays a pivotal role in the immune system’s response to infection. Mutations […]

Symptoms and Testing information for PSTPIP1 Gene Pyogenic Sterile Arthritis Pyoderma Gangrenosum and Acne Genetic Test

Symptoms and Testing information for PSTPIP1 Gene Pyogenic Sterile Arthritis Pyoderma Gangrenosum and Acne Genetic Test

In the realm of genetic testing, understanding the underlying causes of certain complex conditions is paramount. Among these, the PSTPIP1 gene mutation stands out due to its association with a trio of severe disorders: Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA syndrome). DNA Labs UAE is at the forefront of providing comprehensive genetic testing […]

Symptoms and Testing information for NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test

Symptoms and Testing information for NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test

Severe Combined Immunodeficiency (SCID) is a devastating genetic disorder that affects the immune system, leaving individuals highly susceptible to infections. Among its various forms, one rare type is associated with mutations in the NHEJ1 gene. This particular variant not only compromises the immune system but also presents with microcephaly, growth retardation, and increased sensitivity to […]

Symptoms and Testing information for UROD Gene Porphyria Cutanea Tarda Genetic Test

Symptoms and Testing information for UROD Gene Porphyria Cutanea Tarda Genetic Test

Porphyria Cutanea Tarda (PCT) is the most common type of porphyria across the globe. This condition arises from a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which is crucial in the heme production pathway. The lack of UROD activity leads to the accumulation of porphyrins in the skin, causing various symptoms upon exposure to sunlight. […]

Symptoms and Testing information for FECH Gene Protoporphyria Erythropoietic Type 1 Genetic Test

Symptoms and Testing information for FECH Gene Protoporphyria Erythropoietic Type 1 Genetic Test

Symptoms of FECH Gene Protoporphyria Erythropoietic Type 1 Erythropoietic protoporphyria (EPP) is a rare genetic condition that affects the body’s ability to produce heme, an essential component of hemoglobin. The condition is primarily caused by mutations in the FECH gene, leading to the accumulation of protoporphyrin in the blood, skin, and liver. Individuals with EPP […]

Symptoms and Testing information for COMP Gene Pseudoachondroplasia Genetic Test

Symptoms and Testing information for COMP Gene Pseudoachondroplasia Genetic Test

Pseudoachondroplasia is a genetic disorder that affects the development of bone and cartilage, leading to short stature and other skeletal abnormalities. It is caused by mutations in the COMP (Cartilage Oligomeric Matrix Protein) gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test […]

Symptoms and Testing information for ABCC6 Gene Pseudoxanthoma Elasticum Genetic Test

Symptoms and Testing information for ABCC6 Gene Pseudoxanthoma Elasticum Genetic Test

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the connective tissue in some parts of the body. This condition is primarily characterized by changes in the skin, eyes, and blood vessels, and it is caused by mutations in the ABCC6 gene. Understanding the symptoms of this genetic condition is crucial for early diagnosis […]

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