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Symptoms and Testing information for TGFBR1 Gene Loeys-Dietz Syndrome Type 1A Genetic Test

Symptoms and Testing information for TGFBR1 Gene Loeys-Dietz Syndrome Type 1A Genetic Test

Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. One of the genes associated with this condition is the TGFBR1 gene. Mutations in this gene can lead to Loeys-Dietz syndrome Type 1A, a variant of the disorder characterized by a wide range of symptoms and physical features. Understanding these […]

Symptoms and Testing information for LIG4 Gene LIG4 Syndrome Genetic Test

Symptoms and Testing information for LIG4 Gene LIG4 Syndrome Genetic Test

In the realm of genetic research and diagnostics, the understanding and identification of rare genetic disorders have significantly improved the lives of those affected. Among these, LIG4 Syndrome is a rare autosomal recessive disorder that has garnered attention for its complex symptoms and the critical need for accurate diagnosis. DNA Labs UAE stands at the […]

Symptoms and Testing information for SPRED1 Gene Legius Syndrome Genetic Test

Symptoms and Testing information for SPRED1 Gene Legius Syndrome Genetic Test

Legius syndrome, also known as SPRED1 syndrome, is a rare genetic condition that is often mistaken for Neurofibromatosis type 1 (NF1) due to the overlap in symptoms. It is caused by mutations in the SPRED1 gene, which plays a crucial role in the regulation of cell growth and differentiation. Understanding the symptoms of Legius syndrome […]

Symptoms and Testing information for COL2A1 Gene Legg-Calve-Perthes Disease Genetic Test

Symptoms and Testing information for COL2A1 Gene Legg-Calve-Perthes Disease Genetic Test

Legg-Calve-Perthes Disease (LCPD) is a rare condition that affects the hip joint in children. It occurs when blood supply to the femoral head (the ball part of the hip) is temporarily disrupted, causing the bone to die. This can lead to pain, stiffness, and eventually, joint deformity. Understanding the genetic underpinnings of this disease, particularly […]

Symptoms and Testing information for LAMA3 Gene Laryngoonychocutaneous Syndrome Genetic Test

Symptoms and Testing information for LAMA3 Gene Laryngoonychocutaneous Syndrome Genetic Test

Laryngoonychocutaneous syndrome is a rare genetic disorder that affects various parts of the body, including the larynx (voice box), nails, and skin. This condition is caused by mutations in the LAMA3 gene, which plays a crucial role in the development and maintenance of these tissues. Recognizing the symptoms of this syndrome early on can be […]

Symptoms and Testing information for FERMT1 Gene Kindler Syndrome Genetic Test

Symptoms and Testing information for FERMT1 Gene Kindler Syndrome Genetic Test

Symptoms of FERMT1 Gene Kindler Syndrome Genetic Test Kindler Syndrome is a rare genetic disorder that affects the skin primarily, but can also have systemic implications. It is caused by mutations in the FERMT1 gene, which plays a crucial role in the connection between cells and their surrounding extracellular matrix. This connection is vital for […]

Symptoms and Testing information for FBLIM1 Gene Kindler Syndrome Genetic Test

Symptoms and Testing information for FBLIM1 Gene Kindler Syndrome Genetic Test

Symptoms of FBLIM1 Gene Kindler Syndrome Genetic Test Kindler Syndrome is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in the FBLIM1 gene, which plays a crucial role in the development and maintenance of epithelial tissues. Individuals with Kindler Syndrome may experience a wide range of symptoms, […]

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