Cranioectodermal Dysplasia (CED), also known as Sensenbrenner syndrome, is a rare genetic disorder that affects multiple parts of the body including the skeleton, skin, and kidneys. Type 3 of this condition, specifically associated with mutations in the IFT43 gene, is a focus of interest for both medical professionals and families affected by the disorder. DNA […]
Dysmorphology Diseases
Symptoms and Testing information for RET Gene Central Hypoventilation Syndrome Congenital Genetic Test
Symptoms of RET Gene Central Hypoventilation Syndrome Congenital Genetic Test RET Gene Central Hypoventilation Syndrome, also known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. This condition is characterized by the inability of individuals to control their breathing automatically, leading to insufficient ventilation, especially during […]
Symptoms and Testing information for ZEB2 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Central Hypoventilation Syndrome (CHS), also known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. Caused by mutations in the PHOX2B gene and, in rarer cases, the ZEB2 gene, this condition means that individuals affected by it do not automatically control their breathing to adequately respond […]
Symptoms and Testing information for SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome Genetic Test
“` Understanding SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome is a complex genetic condition that affects various systems of the body, including the nervous system, skin, and brain development. This rare syndrome is caused by mutations in the SNAP29 gene, which plays a significant […]
Symptoms and Testing information for ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services to help individuals understand their genetic makeup and potential health risks. Among the specialized tests offered is the ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test, designed to diagnose a rare but serious genetic disorder that affects […]
Symptoms and Testing information for ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 Genetic Test
Understanding the genetic underpinnings of rare diseases is crucial for accurate diagnosis and effective management. Among these rare conditions is Cerebrooculofacioskeletal (COFS) Syndrome Type 4, a disorder that stems from mutations in the ERCC1 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type […]
Symptoms and Testing information for TFAP2B Gene Char Syndrome Genetic Test
Symptoms of TFAP2B Gene Char Syndrome Genetic Test Char Syndrome is a rare genetic disorder that is characterized by a set of unique symptoms. This condition is caused by mutations in the TFAP2B gene, which plays a crucial role in the development of various tissues in the body. Understanding the symptoms of Char Syndrome is […]
Symptoms and Testing information for CHD7 Gene CHARGE Syndrome Genetic Test
CHARGE syndrome is a complex genetic condition that affects various systems in the body. It is caused by mutations in the CHD7 gene, and individuals with this syndrome can exhibit a wide range of symptoms. DNA Labs UAE offers a comprehensive genetic test for CHARGE syndrome, aimed at detecting mutations in the CHD7 gene. This […]
Symptoms and Testing information for PIGL Gene CHIME Syndrome Genetic Test
— Understanding CHIME Syndrome CHIME syndrome is a rare genetic disorder caused by mutations in the PIGL gene. It is characterized by a constellation of symptoms that significantly impact the affected individuals. The name CHIME is an acronym that stands for Coloboma of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation (now more appropriately termed […]
Symptoms and Testing information for IMPAD1 Gene Chondrodysplasia with Joint Dislocations GPAPP Type Genetic Test
Chondrodysplasia with joint dislocations, GPAPP type, is a rare genetic disorder that affects the development of bones and cartilage, leading to skeletal abnormalities, joint dislocations, and other related symptoms. This condition is caused by mutations in the IMPAD1 gene. Understanding the symptoms and the importance of genetic testing for this condition is crucial for early […]