Microcephaly is a rare neurological condition where an infant’s head is significantly smaller than the heads of other children of the same age and sex. This condition can be the result of a variety of genetic and environmental factors. Among the genetic causes, mutations in the AP4M1 gene have been identified as a significant contributor. […]
Dysmorphology Diseases
Symptoms and Testing information for ARX Gene Lissencephaly X-Linked Type 2 Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic makeup and manage their health proactively. One of the critical tests we offer is the ARX Gene Lissencephaly X-Linked Type 2 Genetic Test. This test is crucial for diagnosing a rare genetic disorder that […]
Symptoms and Testing information for ORC4 Gene Meier-Gorlin Syndrome Type 2 Genetic Test
Meier-Gorlin Syndrome (MGS) is a rare genetic disorder that is primarily characterized by short stature, small ears, and absent or underdeveloped kneecaps (patellae). Among the various genes associated with this condition, mutations in the ORC4 gene result in Meier-Gorlin Syndrome Type 2. Recognizing the symptoms associated with this specific type is crucial for early diagnosis […]
Symptoms and Testing information for MED12 Gene Lujan-Fryns Syndrome Genetic Test
Symptoms of MED12 Gene Lujan-Fryns Syndrome Genetic Test Lujan-Fryns syndrome (LFS) is a rare genetic disorder that primarily affects males, though females can be carriers of the condition. It is associated with mutations in the MED12 gene, located on the X chromosome. This condition is characterized by a variety of physical, behavioral, and cognitive features. […]
Symptoms and Testing information for FOXC2 Gene Lymphedema-Distichiasis Syndrome Genetic Test
Lymphedema-Distichiasis Syndrome (LDS) is a rare, genetic condition that is often underdiagnosed due to its variable presentation and the subtlety of its early symptoms. This condition is caused by mutations in the FOXC2 gene, which plays a crucial role in the development and function of the lymphatic system. Understanding the symptoms of this condition is […]
Symptoms and Testing information for RIN2 Gene Macrocephaly Alopecia Cutis Laxa and Scoliosis Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a wide range of services designed to provide valuable insights into your genetic makeup and potential health risks. One of the specialized tests offered by DNA Labs UAE is the RIN2 Gene Macrocephaly Alopecia Cutis Laxa and Scoliosis Genetic Test. This comprehensive test is […]
Symptoms and Testing information for POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome Genetic Test
Understanding POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome, commonly abbreviated as MDPL Syndrome, is a rare genetic disorder that presents a constellation of symptoms. This condition is caused by mutations in the POLD1 gene, which plays a crucial role in DNA replication […]
Symptoms and Testing information for LMNA Gene Mandibuloacral Dysplasia Genetic Test
Mandibuloacral Dysplasia (MAD) is a rare genetic disorder that affects various systems of the body. It is primarily characterized by skeletal abnormalities, skin changes, and a predisposition to metabolic disorders. The condition is caused by mutations in the LMNA gene, which plays a crucial role in maintaining the structural integrity of the nucleus in cells. […]
Symptoms and Testing information for EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly Genetic Test
Mandibulofacial Dysostosis with Microcephaly (MFDM) is a rare genetic disorder that presents with a spectrum of symptoms affecting various parts of the body, particularly the face and head. At the heart of diagnosing this condition is understanding the role of the EFTUD2 gene, which has been identified as a critical factor in the development of […]
Symptoms and Testing information for PIEZO2 Gene Marden-Walker Syndrome Genetic Test
Marden-Walker Syndrome (MWS) is a rare genetic disorder characterized by multiple congenital contractures (arthrogryposis), facial anomalies, and pulmonary hypoplasia, among other symptoms. It has been linked to mutations in the PIEZO2 gene, which plays a significant role in the body’s ability to respond to mechanical stimuli, such as touch and proprioception. DNA Labs UAE offers […]