Understanding the complexities of genetic conditions is essential for both individuals and healthcare professionals. One such condition that has garnered attention is the Loeys-Dietz Syndrome (LDS), specifically Type 1C, which is associated with mutations in the SMAD3 gene. DNA Labs UAE is at the forefront of providing genetic testing services to diagnose this condition accurately. […]
Osteology Diseases
Symptoms and Testing information for TGFBR1 Gene Loeys-Dietz Syndrome Type 2A Genetic Test
Symptoms of TGFBR1 Gene Loeys-Dietz Syndrome Type 2A Genetic Test Loeys-Dietz syndrome (LDS) is a rare genetic disorder that affects the connective tissue in the body. It is characterized by a variety of symptoms that can range from mild to life-threatening. The TGFBR1 gene Loeys-Dietz syndrome type 2A genetic test is a critical diagnostic tool […]
Symptoms and Testing information for AAGAB Gene Keratoderma Palmoplantar Punctate Type 1A Genetic Test
Keratoderma Palmoplantar Punctate Type 1A, a rare genetic condition, manifests itself through distinctive skin anomalies primarily affecting the palms of the hands and soles of the feet. This condition is attributed to mutations in the AAGAB gene, playing a crucial role in the development and maintenance of skin cells. Recognizing the symptoms and understanding the […]
Symptoms and Testing information for TGFBR2 Gene Loeys-Dietz Syndrome Type 2B Genetic Test
In the realm of genetic testing, advancements have paved the way for the identification and management of numerous hereditary conditions. Among these, Loeys-Dietz Syndrome (LDS) Type 2B, associated with mutations in the TGFBR2 gene, stands out for its complexity and the critical need for early detection. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans X-Linked Genetic Test
Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder that primarily affects the skin and eyes. It is characterized by widespread keratosis pilaris, scarring alopecia of the scalp, and, in some cases, photophobia due to eye involvement. The condition is linked to mutations in the MBTPS2 gene and follows an X-linked inheritance pattern, meaning […]
Symptoms and Testing information for FLT4 Gene Lymphedema Hereditary Type 1A Genetic Test
Lymphedema Hereditary Type 1A, caused by mutations in the FLT4 gene, is a rare genetic disorder that affects the lymphatic system, leading to swelling, primarily in the limbs. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at identifying […]
Symptoms and Testing information for POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test
Symptoms of POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (KLICK syndrome) is a rare genetic disorder, characterized by a trio of skin abnormalities. This condition is caused by mutations in the POMP gene, which plays a critical role in skin development and […]
Symptoms and Testing information for GJC2 Gene Lymphedema Hereditary Type IC Genetic Test
Lymphedema Hereditary Type IC, caused by mutations in the GJC2 gene, is a rare genetic disorder that leads to the abnormal swelling of body parts, primarily the limbs. This condition stems from the improper functioning of the lymphatic system, which fails to properly drain lymph fluid. Understanding the symptoms associated with this condition is crucial […]
Symptoms and Testing information for DSG1 Gene Keratosis Palmoplantaris Striata Type 1 Genetic Test
Keratosis palmoplantaris striata type 1, also known as striate palmoplantar keratoderma (SPPK), is a rare genetic skin disorder characterized by the development of thickened skin (keratoderma) on the palms of the hands and the soles of the feet. This condition is caused by mutations in the DSG1 gene, which plays a crucial role in skin […]
Symptoms and Testing information for CD27 Gene Lymphoproliferative Syndrome Type 2 Genetic Test
Symptoms of CD27 Gene Lymphoproliferative Syndrome Type 2 Genetic Test CD27 Gene Lymphoproliferative Syndrome Type 2 is a rare genetic disorder that affects the immune system, leading to an increased risk of developing various autoimmune diseases and lymphomas. Understanding the symptoms associated with this condition is crucial for early diagnosis and management. DNA Labs UAE […]