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Symptoms and Testing information for DSC3 Gene Hypotrichosis and recurrent skin vesicles Genetic Test

Symptoms and Testing information for DSC3 Gene Hypotrichosis and recurrent skin vesicles Genetic Test

— Hypotrichosis and recurrent skin vesicles are rare genetic conditions that have garnered attention in the medical community due to their unique symptoms and inheritance patterns. These conditions are often caused by mutations in the DSC3 gene. Understanding these conditions, their symptoms, and the availability of genetic testing is crucial for affected individuals and their […]

Symptoms and Testing information for PHEX Gene Hypophosphatemic rickets X-linked Genetic Test

Symptoms and Testing information for PHEX Gene Hypophosphatemic rickets X-linked Genetic Test

Hypophosphatemic rickets, specifically the X-linked form, is a rare genetic disorder that affects the bones, leading to abnormalities such as bowing of the legs, dental anomalies, and bone pain. This condition is primarily caused by mutations in the PHEX gene. Understanding the symptoms and genetic underpinnings of this disease is crucial for early diagnosis and […]

Symptoms and Testing information for ENPP1 Gene Hypophosphatemic rickets autosomal recessive type 2 Genetic Test

Symptoms and Testing information for ENPP1 Gene Hypophosphatemic rickets autosomal recessive type 2 Genetic Test

Hypophosphatemic rickets, particularly the autosomal recessive type 2, is a rare but significant condition that impacts the bones, leading to their softening and weakening. This condition is primarily caused by mutations in the ENPP1 gene. Understanding the symptoms and genetic underpinnings of this condition is crucial for timely diagnosis and management. DNA Labs UAE offers […]

Symptoms and Testing information for DMP1 Gene Hypophosphatemic rickets autosomal recessive type 1 Genetic Test

Symptoms and Testing information for DMP1 Gene Hypophosphatemic rickets autosomal recessive type 1 Genetic Test

DMP1 gene Hypophosphatemic rickets autosomal recessive type 1 is a rare genetic disorder that affects bone development and mineralization. This condition, caused by mutations in the DMP1 gene, leads to a range of symptoms that can significantly impact an individual’s quality of life. Recognizing these symptoms early on is crucial for managing the condition effectively. […]

Symptoms and Testing information for FGFR3 Gene Hypochondroplasia Genetic Test

Symptoms and Testing information for FGFR3 Gene Hypochondroplasia Genetic Test

In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of our genetic makeup has never been more accessible. Among the myriad of genetic conditions that can now be identified through advanced genetic testing, Hypochondroplasia, caused by mutations in the FGFR3 gene, stands out due to its impact on skeletal development. DNA Labs […]

Symptoms and Testing information for SLCO2A1 Gene Hypertrophic osteoarthropathy type 2 Genetic Test

Symptoms and Testing information for SLCO2A1 Gene Hypertrophic osteoarthropathy type 2 Genetic Test

Understanding the nuances of genetic disorders is crucial for early diagnosis and effective treatment. One such rare genetic condition is Hypertrophic Osteoarthropathy Type 2, primarily caused by mutations in the SLCO2A1 gene. This condition is characterized by a variety of symptoms that can significantly impact an individual’s quality of life. Recognizing these symptoms early on […]

Symptoms and Testing information for HPGD Gene Hypertrophic osteoarthropathy type 1 Genetic Test

Symptoms and Testing information for HPGD Gene Hypertrophic osteoarthropathy type 1 Genetic Test

Understanding HPGD Gene Hypertrophic Osteoarthropathy Type 1 Hypertrophic osteoarthropathy (HOA) is a medical condition characterized by the combination of clubbing (a deformity of the fingers and fingernails) and periostitis (swelling of the periosteal tissue around the bones) leading to joint pain and other symptoms. One genetic form of this condition, specifically Hypertrophic Osteoarthropathy Type 1, […]

Symptoms and Testing information for DOCK8 Gene Hyper-IgE recurrent infection syndrome autosomal recessive Genetic Test

Symptoms and Testing information for DOCK8 Gene Hyper-IgE recurrent infection syndrome autosomal recessive Genetic Test

DOCK8 Gene Hyper-IgE Recurrent Infection Syndrome, also known as Autosomal Recessive Hyper-IgE Syndrome (AR-HIES), is a rare genetic disorder that significantly impacts the immune system. This condition is characterized by high levels of immunoglobulin E (IgE), recurrent skin and lung infections, and a variety of other systemic symptoms. Understanding the symptoms of this syndrome is […]

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