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 […]

Symptoms and Testing information for SMAD4 Gene Myhre Syndrome Genetic Test

Symptoms and Testing information for SMAD4 Gene Myhre Syndrome Genetic Test

— Myhre syndrome is a rare genetic condition characterized by a variety of symptoms and physical features due to mutations in the SMAD4 gene. Understanding the symptoms of Myhre syndrome is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the SMAD4 gene, providing […]

Symptoms and Testing information for CEP63 Gene Microcephaly CEP63 Related Genetic Test

Symptoms and Testing information for CEP63 Gene Microcephaly CEP63 Related Genetic Test

Microcephaly is a medical condition characterized by a smaller than average head size, which often leads to developmental delays and neurological problems in affected individuals. This condition can be caused by a variety of factors, including infections during pregnancy, exposure to toxic substances, and genetic abnormalities. Among the genetic causes of microcephaly, mutations in the […]

Symptoms and Testing information for MRE11 Gene Microcephaly MRE11A Related Genetic Test

Symptoms and Testing information for MRE11 Gene Microcephaly MRE11A Related Genetic Test

Microcephaly is a medical condition where a baby’s head is significantly smaller than expected, often due to abnormal brain development. The MRE11 gene plays a crucial role in DNA repair mechanisms, and mutations in the MRE11A gene are associated with a rare form of microcephaly. Understanding the symptoms and genetic underpinnings of this condition is […]

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