In the realm of genetic testing and diagnosis, understanding the nuances of specific syndromes is crucial for effective treatment and management. One such condition that has garnered attention in the medical community is IMAGE Syndrome, a rare disorder associated with mutations in the CDKN1C gene. At DNA Labs UAE, we offer a comprehensive genetic test […]
Holt-Oram syndrome, also known as heart-hand syndrome, is a genetic condition characterized by abnormalities in the hands and arms and heart defects. This condition is caused by mutations in the TBX5 gene. Recognizing the symptoms early and undergoing genetic testing can be crucial for managing and treating the condition effectively. DNA Labs UAE offers a […]
In the realm of genetic testing, the identification and understanding of rare genetic conditions have taken a significant leap forward, thanks to advancements in technology and research. Among these conditions, Hutchinson-Gilford Progeria Syndrome (HGPS) stands out due to its rarity and the unique challenges it presents. This condition, primarily caused by mutations in the LMNA […]
Hydranencephaly is a rare neurological condition characterized by the absence of cerebral hemispheres, which are replaced by sacs filled with cerebrospinal fluid. One specific form of this condition, known as Fowler type, has been linked to mutations in the FLVCR2 gene. DNA Labs UAE is at the forefront of diagnosing this genetic disorder through the […]
Hydrolethalus Syndrome is a rare genetic disorder that primarily affects the development of the fetus, leading to severe malformations and, in most cases, resulting in stillbirth or death shortly after birth. This condition is caused by mutations in the HYLS1 gene, which plays a crucial role in the early stages of embryonic development. Recognizing the […]
Hypermethioninemia due to adenosine kinase (ADK) deficiency is a rare genetic condition that affects the body’s ability to metabolize certain amino acids properly. This disorder can lead to a range of symptoms, some of which may be severe and impact an individual’s quality of life. Understanding these symptoms is crucial for early diagnosis and effective […]
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AHCY) is a rare genetic disorder affecting the body’s ability to process certain amino acids properly. This condition can lead to a range of symptoms and health issues, making it crucial for individuals to understand the potential signs and the importance of genetic testing. DNA Labs UAE offers a […]
Symptoms of PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Hyperphosphatasia with mental retardation syndrome type 1 (HPMRS1), also known as Mabry syndrome, is a rare genetic disorder caused by mutations in the PIGV gene. This condition is characterized by elevated levels of alkaline phosphatase in the blood, intellectual disability, and various physical anomalies. […]
Hirschsprung disease is a rare disorder that affects the large intestine (colon) and causes problems with passing stool. It is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. A leading cause of this condition is mutations in the RET gene, among others. Recognizing the symptoms […]
— Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is a rare genetic condition characterized by elevated levels of alkaline phosphatase, intellectual disability, and distinct facial features. One of the genes associated with this condition is the PIGO gene, which plays a critical role in glycosylphosphatidylinositol (GPI) anchor biosynthesis. The GPI anchor […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
