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Symptoms and Testing information for PITX1 Gene Club Foot Genetic Test

Symptoms and Testing information for PITX1 Gene Club Foot Genetic Test

Symptoms of PITX1 Gene Club Foot Genetic Test Clubfoot, also known as talipes equinovarus, is a congenital condition marked by a deformity that affects one or both feet. It is characterized by the foot being turned inward and downward at birth. The PITX1 gene plays a significant role in the development of the lower limbs […]

Symptoms and Testing information for MEIS2 Gene Cleft Palate Cardiac Defects and Mental Retardation Genetic Test

Symptoms and Testing information for MEIS2 Gene Cleft Palate Cardiac Defects and Mental Retardation Genetic Test

Symptoms of MEIS2 Gene Cleft Palate, Cardiac Defects, and Mental Retardation The MEIS2 gene plays a crucial role in early development, influencing the formation of various bodily structures, including the palate, heart, and brain. Mutations in this gene can lead to a range of developmental issues, notably cleft palate, cardiac defects, and mental retardation. Recognizing […]

Symptoms and Testing information for GPSM2 Gene Chudley-McCullough Syndrome Genetic Test

Symptoms and Testing information for GPSM2 Gene Chudley-McCullough Syndrome Genetic Test

Chudley-McCullough Syndrome (CMS) is a rare genetic condition that affects various systems within the body, primarily characterized by profound sensorineural hearing loss and brain abnormalities. The condition is caused by mutations in the GPSM2 gene. Understanding the symptoms and getting a timely diagnosis can significantly impact the management and quality of life for individuals affected […]

Symptoms and Testing information for BMPR1B Gene Chrondrodysplasia Acromesomelic with Genital Anomalies Genetic Test

Symptoms and Testing information for BMPR1B Gene Chrondrodysplasia Acromesomelic with Genital Anomalies Genetic Test

Chondrodysplasia acromesomelic with genital anomalies is a rare genetic condition that is characterized by severe growth retardation, affecting the development of the skeletal system, particularly the bones of the arms and legs, and can also be associated with genital anomalies. This condition is caused by mutations in the BMPR1B gene. Understanding the symptoms and genetic […]

Symptoms and Testing information for CHM Gene Choroideremia Genetic Test

Symptoms and Testing information for CHM Gene Choroideremia Genetic Test

In the realm of genetic testing, advancements have made it possible to identify a myriad of genetic conditions early on, allowing for better management and understanding of various diseases. Among these conditions is Choroideremia, a rare genetic disorder that leads to progressive vision loss. This disorder primarily affects males due to its X-linked recessive inheritance […]

Symptoms and Testing information for PTH1R Gene Chondrodysplasia Blomstrand Type Genetic Test

Symptoms and Testing information for PTH1R Gene Chondrodysplasia Blomstrand Type Genetic Test

Chondrodysplasia Blomstrand type is a rare genetic condition that affects the development of bones, leading to severe skeletal abnormalities. This condition is caused by mutations in the PTH1R gene, which plays a crucial role in bone development and growth. Understanding the symptoms and undergoing genetic testing for this condition is vital for early diagnosis and […]

Symptoms and Testing information for IMPAD1 Gene Chondrodysplasia with Joint Dislocations GPAPP Type Genetic Test

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 […]

Symptoms and Testing information for PIGL Gene CHIME Syndrome Genetic Test

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 CHD7 Gene CHARGE Syndrome Genetic Test

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 […]

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