DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive array of services to identify various genetic conditions, including the PKP1 Gene Ectodermal Dysplasia/Skin Fragility Syndrome. This condition, caused by mutations in the PKP1 gene, presents a unique set of challenges and symptoms for those affected. Understanding these symptoms and […]
Osteology Diseases
Symptoms and Testing information for COL5A1 Gene Ehlers-Danlos Syndrome Type 12 Genetic Test
Symptoms of COL5A1 Gene Ehlers-Danlos Syndrome Type 12 Genetic Test Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect connective tissues, primarily skin, joints, and blood vessel walls. Type 12 EDS, also known as vascular-like EDS, is linked to mutations in the COL5A1 gene. This particular form of EDS is characterized by a […]
Symptoms and Testing information for COL5A2 Gene Ehlers-Danlos Syndrome Type 12 Genetic Test
Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders characterized by a wide range of symptoms due to the abnormality in collagen production or structure. Among its subtypes, the COL5A2 gene Ehlers-Danlos Syndrome, also known as Type 12, is less common but significant due to its unique genetic background and clinical manifestations. Understanding […]
Symptoms and Testing information for COL3A1 Gene Ehlers-Danlos Syndrome Type 3 Genetic Test
Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders, characterized by a variety of clinical features including hypermobility, skin hyperextensibility, and tissue fragility. One specific subtype of this condition, known as the Vascular Ehlers-Danlos Syndrome (vEDS), is caused by mutations in the COL3A1 gene. This particular type is considered one of the most […]
Symptoms and Testing information for ALDH18A1 Gene Cutis Laxa Type 3A Autosomal Recessive Genetic Test
Understanding the genetic underpinnings of rare diseases is a crucial step towards early diagnosis and effective management. One such condition, Cutis Laxa Type 3A, is a rare genetic disorder characterized by a variety of symptoms, primarily affecting the skin, joints, and vascular system. This condition is caused by mutations in the ALDH18A1 gene and follows […]
Symptoms and Testing information for RTEL1 Gene Dyskeratosis Congenita Autosomal Recessive Type 5 Genetic Test
At DNA Labs UAE, we understand the significance of accurate genetic testing in diagnosing and managing genetic disorders. One such rare genetic condition is Dyskeratosis Congenita, specifically Autosomal Recessive Type 5, which is linked to mutations in the RTEL1 gene. Recognizing the symptoms and opting for a genetic test can be crucial in managing this […]
Symptoms and Testing information for PYCR1 Gene Cutis Laxa Type 3B Autosomal Recessive Genetic Test
Understanding the symptoms of PYCR1 Gene Cutis Laxa Type 3B, an autosomal recessive genetic condition, is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test to identify this condition, providing essential insights into its management and treatment options. This article delves into the symptoms associated with PYCR1 Gene Cutis Laxa […]
Symptoms and Testing information for PARN Gene Dyskeratosis Congenita Autosomal Recessive Type 6 Genetic Test
Understanding PARN Gene Dyskeratosis Congenita Autosomal Recessive Type 6 Dyskeratosis Congenita (DC) is a rare, genetically heterogeneous disorder often characterized by the classic triad of reticulated skin pigmentation, nail dystrophy, and oral leukoplakia. The condition varies in its presentation and severity, with some patients experiencing a broad spectrum of additional symptoms including bone marrow failure, […]
Symptoms and Testing information for ELN Gene Cutis Laxa Autosomal Dominant Genetic Test
Cutis laxa is a rare genetic disorder characterized by loose, sagging skin that lacks elasticity. The condition can also affect the internal organs, leading to a variety of health issues. One form of this condition, autosomal dominant cutis laxa, is caused by mutations in the ELN gene. Understanding the symptoms and getting an accurate diagnosis […]
Symptoms and Testing information for ACD Gene Dyskeratosis Congenita Autosomal Recessive Type 7 Genetic Test
Dyskeratosis Congenita (DC) is a rare, genetically heterogeneous disorder characterized by the triad of reticulated skin pigmentation, nail dystrophy, and oral leukoplakia. The condition is associated with a broad spectrum of systemic manifestations, including bone marrow failure, pulmonary fibrosis, liver disease, and an increased risk of malignancy. Among the genetic variations leading to Dyskeratosis Congenita, […]