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Symptoms and Testing information for PROK2 Gene Kallmann Syndrome Type 4 Genetic Test

Symptoms and Testing information for PROK2 Gene Kallmann Syndrome Type 4 Genetic Test

### Article Content: Kallmann Syndrome Type 4 is a rare genetic disorder characterized by a combination of delayed or absent puberty and an impaired sense of smell. This condition is caused by mutations in the PROK2 gene, which plays a crucial role in the development of the reproductive and olfactory systems. Understanding the symptoms and […]

Symptoms and Testing information for FGFR1 Gene Kallmann Syndrome Type 2 Genetic Test

Symptoms and Testing information for FGFR1 Gene Kallmann Syndrome Type 2 Genetic Test

Kallmann Syndrome (KS) is a rare genetic condition characterized by the combination of delayed or absent puberty and an impaired sense of smell (anosmia). This condition falls under the umbrella of hypogonadotropic hypogonadism, where the body’s production of sex hormones is insufficient due to a lack of signals from the brain. One of the genes […]

Symptoms and Testing information for ANOS1 Gene Kallmann Syndrome Type 1 Genetic Test

Symptoms and Testing information for ANOS1 Gene Kallmann Syndrome Type 1 Genetic Test

Symptoms of ANOS1 Gene Kallmann Syndrome Type 1 Kallmann Syndrome Type 1 is a rare genetic disorder that affects the development of the hypothalamic area of the brain, which is responsible for controlling the release of hormones from the pituitary gland. This condition is specifically associated with the ANOS1 gene mutations, leading to a spectrum […]

Symptoms and Testing information for UBR1 Gene Johanson Blizzard Syndrome Genetic Test

Symptoms and Testing information for UBR1 Gene Johanson Blizzard Syndrome Genetic Test

Johanson-Blizzard Syndrome (JBS) is a rare genetic disorder that presents a wide range of symptoms affecting multiple organ systems. This condition is primarily caused by mutations in the UBR1 gene, which plays a crucial role in the degradation of proteins and the regulation of pancreatic enzymes. Recognizing the symptoms of JBS is vital for early […]

Symptoms and Testing information for FAN1 Gene Interstitial Nephritis Karyomegalic Genetic Test

Symptoms and Testing information for FAN1 Gene Interstitial Nephritis Karyomegalic Genetic Test

Understanding the Symptoms of FAN1 Gene Interstitial Nephritis Karyomegalic Genetic Disorder Interstitial nephritis is a critical condition that affects the kidneys by causing inflammation of the spaces between the kidney tubules. When this condition is linked to the FAN1 gene, it becomes a part of a rare genetic disorder known as Karyomegalic Interstitial Nephritis (KIN). […]

Symptoms and Testing information for MAGT1 Gene Immunodeficiency X-Linked with Magnesium Defect Epstein-Barr Virus Infection and Neoplasia Genetic Test

Symptoms and Testing information for MAGT1 Gene Immunodeficiency X-Linked with Magnesium Defect Epstein-Barr Virus Infection and Neoplasia Genetic Test

Understanding MAGT1 Gene Immunodeficiency The MAGT1 gene plays a crucial role in the human immune system, particularly in its ability to respond to infections and maintain a healthy balance of magnesium within cells. Mutations in the MAGT1 gene can lead to a rare, X-linked condition known as MAGT1 gene immunodeficiency. This condition is characterized by […]

Symptoms and Testing information for CR2 Gene Immunodeficiency Common Variable Type 7 Genetic Test

Symptoms and Testing information for CR2 Gene Immunodeficiency Common Variable Type 7 Genetic Test

Symptoms of CR2 Gene Immunodeficiency Common Variable Type 7 Common Variable Immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by a low level of antibodies, which can lead to increased susceptibility to infections. Type 7, associated with mutations in the CR2 gene, is one of the rare subtypes of this condition. Understanding the symptoms of […]

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