Symptoms and Testing information for SOS1 Gene Noonan Syndrome Type 4 Genetic Test

Symptoms and Testing information for SOS1 Gene Noonan Syndrome Type 4 Genetic Test

Noonan Syndrome is a relatively common genetic disorder that affects many parts of the body. It is characterized by distinctive facial features, heart defects, developmental delays, and other physical problems. Among its various types, Noonan Syndrome Type 4, caused by mutations in the SOS1 gene, is of significant interest. Recognizing the symptoms early can lead […]

Symptoms and Testing information for PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test

Symptoms and Testing information for PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test

In the realm of genetic testing and diagnosis, the advancements have been nothing short of revolutionary, providing insights into various genetic disorders that were once a mystery. Among these, mitochondrial myopathies and sideroblastic anemia represent a group of disorders that pose significant challenges to individuals affected by them. A key player in the understanding and […]

Symptoms and Testing information for KNL1 Gene Microcephaly Autosomal Recessive Type 4 Genetic Test

Symptoms and Testing information for KNL1 Gene Microcephaly Autosomal Recessive Type 4 Genetic Test

Microcephaly is a medical condition where a baby’s head is significantly smaller than expected, often due to abnormal brain development. Autosomal recessive microcephaly type 4, associated with mutations in the KNL1 gene, is a rare genetic disorder. This condition not only affects head size but can also lead to developmental delays and neurological issues. Understanding […]

Symptoms and Testing information for TRIM37 Gene Mulibrey Nanism Genetic Test

Symptoms and Testing information for TRIM37 Gene Mulibrey Nanism Genetic Test

Symptoms of TRIM37 Gene Mulibrey Nanism Genetic Test Mulibrey Nanism, a rare genetic disorder, results from mutations in the TRIM37 gene. This condition affects multiple bodily systems, leading to a wide array of symptoms. Recognizing these symptoms early can be crucial for managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for […]

Symptoms and Testing information for PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 Genetic Test

Symptoms and Testing information for PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 Genetic Test

Symptoms of PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 (MCAHS1) is a rare genetic disorder caused by mutations in the PIGN gene. This condition is characterized by a wide range of symptoms that can vary significantly among affected individuals. However, some common features have been identified, which include […]

Symptoms and Testing information for B3GAT3 Gene Multiple Joint Dislocations Short Stature Craniofacial Dysmorphism and Congenital Heart Defects Genetic Test

Symptoms and Testing information for B3GAT3 Gene Multiple Joint Dislocations Short Stature Craniofacial Dysmorphism and Congenital Heart Defects Genetic Test

— The B3GAT3 gene plays a crucial role in the human body, influencing various developmental processes. Mutations in this gene can lead to a rare and complex condition characterized by multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects. Understanding the symptoms and underlying genetic factors of this condition is essential for early […]

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