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 […]
Dysmorphology Diseases
Symptoms and Testing information for IRX5 Gene Hamamy Syndrome Genetic Test
— Hamamy Syndrome, also known as IRX5 Gene Syndrome, is a rare genetic condition that has captured the attention of medical professionals and geneticists worldwide. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the IRX5 Gene Hamamy Syndrome Genetic Test. This article aims to shed light on the symptoms […]
Symptoms and Testing information for EDNRB Gene Hirschsprung Disease Genetic Test
In the realm of genetic testing, understanding the symptoms and implications of specific genetic conditions is paramount for early detection and management. One such condition, Hirschsprung disease, is associated with mutations in several genes, including the EDNRB gene. This article delves into the symptoms of Hirschsprung disease linked to the EDNRB gene and provides information […]
Symptoms and Testing information for HOXA13 Gene Hand-Foot-Uterus Syndrome Genetic Test
Symptoms of HOXA13 Gene Hand-Foot-Uterus Syndrome The HOXA13 gene hand-foot-uterus syndrome, also known as Guttmacher syndrome, is a rare genetic disorder that affects the development of the limbs, genitourinary tract, and, in some cases, the heart. This condition is caused by mutations in the HOXA13 gene, which plays a crucial role in the embryonic development […]
Symptoms and Testing information for KIF1BP Gene Hirschsprung Disease Genetic Test
Hirschsprung disease is a rare congenital condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. A significant advancement in understanding the genetic basis of Hirschsprung disease has been the identification […]
Symptoms and Testing information for FGFR1 Gene Hartsfield Syndrome Genetic Test
Hartsfield Syndrome is a rare genetic disorder that has captured the attention of medical professionals and geneticists worldwide. This condition, which affects multiple body systems, is primarily characterized by the combination of holoprosencephaly, a condition where the brain fails to divide properly into the right and left hemispheres, and ectrodactyly, the congenital absence of all […]
Symptoms and Testing information for NRG1 Gene Hirschsprung Disease Genetic Test
Symptoms of NRG1 Gene Hirschsprung Disease Genetic Test Hirschsprung disease is a serious condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of a baby’s colon. A pivotal gene associated with the development of […]
Symptoms and Testing information for LMNA Gene Heart-Hand Syndrome Slovenian Type Genetic Test
At DNA Labs UAE, we understand the critical importance of genetic testing in diagnosing and managing various inherited conditions. One such condition is the Heart-Hand Syndrome Slovenian Type, which is linked to mutations in the LMNA gene. This article aims to provide comprehensive information on the symptoms associated with this condition, the significance of genetic […]
Symptoms and Testing information for NRTN Gene Hirschsprung Disease Genetic Test
Symptoms of NRTN Gene Hirschsprung Disease Genetic Test Hirschsprung disease is a serious condition that affects the large intestine (colon) and causes problems with passing stool. It is a congenital condition, meaning it is present at birth, resulting from missing nerve cells in the muscles of part or all of the baby’s colon. A genetic […]
Symptoms and Testing information for ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test
ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a rare genetic condition that has garnered attention in the medical community for its complex presentation and the diverse range of symptoms it encompasses. This condition is caused by mutations in the ADNP gene, which plays a crucial role in the development of the brain […]