Symptoms and Testing information for FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation Genetic Test

Symptoms and Testing information for FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation Genetic Test

Understanding the complex nature of genetic disorders is pivotal for early diagnosis and effective management. Among these, a condition linked to mutations in the FGFR2 gene is of significant interest to medical researchers and clinicians. This condition is characterized by a unique combination of symptoms, including scaphocephaly, maxillary retrusion, and mental retardation. Recognizing these symptoms […]

Symptoms and Testing information for GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test

Symptoms and Testing information for GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test

— Rhizomelic Chondrodysplasia Punctata (RCDP) Type 2 is a rare genetic disorder that affects multiple systems within the body, including skeletal development, vision, and respiratory function. This condition is caused by mutations in the GNPAT gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]

Symptoms and Testing information for MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test

Symptoms and Testing information for MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test

Symptoms of MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test Schaaf-Yang syndrome is a complex genetic disorder that affects many parts of the body and is caused by mutations in the MAGEL2 gene. Recognizing the symptoms early on can significantly impact the management and treatment of the condition. DNA Labs UAE offers a comprehensive genetic test for […]

Symptoms and Testing information for WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test

Symptoms and Testing information for WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test

Symptoms of WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test Ritscher-Schinzel Syndrome Type 1, also known as Cranio-cerebello-cardiac (3C) syndrome, is a rare genetic disorder characterized by distinctive craniofacial features, cerebellar abnormalities, and congenital heart defects. The WASHC5 gene, previously known as KIAA0196, has been identified as a crucial gene associated with this syndrome. Understanding […]

Symptoms and Testing information for ESCO2 Gene Roberts Syndrome Genetic Test

Symptoms and Testing information for ESCO2 Gene Roberts Syndrome Genetic Test

Symptoms of ESCO2 Gene Roberts Syndrome Genetic Test Roberts Syndrome, a rare genetic disorder, has been a subject of study and concern within the medical community due to its significant impact on individuals’ lives. It is caused by mutations in the ESCO2 gene, which plays a critical role in the development of bones, limbs, and […]

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