Branchiootorenal (BOR) syndrome, also known as Branchiootic syndrome type 1, is a genetic disorder that affects the development of tissues in the neck and causes malformations of the ears and kidneys. This condition is attributed to mutations in the EYA1 gene, which plays a crucial role in the development of these organs. Understanding the symptoms […]
Ear Nose Throat Diseases
Symptoms and Testing information for SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 Genetic Test
Brown-Vialetto-Van Laere syndrome 1 is a rare neurologic disorder that stems from mutations in the SLC52A3 gene. This condition is part of a group of genetic disorders that impact the nervous system’s functionality, leading to a range of symptoms that can significantly affect an individual’s quality of life. DNA Labs UAE offers a comprehensive genetic […]
Symptoms and Testing information for SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 Genetic Test
Brown-Vialetto-Van Laere syndrome type 2 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the SLC52A2 gene, which plays a crucial role in the body’s metabolism of riboflavin (vitamin B2). This condition is characterized by a wide range of symptoms, which can vary significantly from one individual to […]
Symptoms and Testing information for IARS2 Gene Cataracts growth hormone deficiency sensory neuropathy sensorineural hearing loss and skeletal dysplasia Genetic Test
In the realm of genetic testing and diagnostics, understanding complex genetic disorders is crucial for providing targeted treatments and interventions. Among these disorders, a rare but significant condition involves mutations in the IARS2 gene. This gene is associated with a spectrum of symptoms including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal […]
Symptoms and Testing information for PTPN23 Gene Ciliogenesis related disorder Genetic Test
DNA Labs UAE is at the forefront of genetic testing and research, offering a comprehensive array of tests designed to diagnose and understand a myriad of genetic conditions. Among these is the PTPN23 Gene Ciliogenesis Related Disorder Genetic Test, a crucial diagnostic tool for individuals suspected of having disorders related to ciliogenesis due to mutations […]
Symptoms and Testing information for CATSPER2 Gene Deafness and male infertility CATSPER2 related Genetic Test
The CATSPER2 gene plays a crucial role in human biology, being intimately linked with two significant conditions: deafness and male infertility. Understanding the symptoms and implications of CATSPER2 gene mutations is essential for those who may be at risk. DNA Labs UAE offers a comprehensive genetic test specifically designed to analyze the CATSPER2 gene, providing […]
Symptoms and Testing information for GJB2 Gene Deafness with Keratopachydermia and Constrictions of Fingers and Toes Genetic Test
Symptoms of GJB2 Gene Deafness with Keratopachydermia and Constrictions of Fingers and Toes Genetic Test Understanding the genetic underpinnings of various conditions is crucial for early diagnosis and treatment. One such condition involves the GJB2 gene, which has been associated with deafness, keratopachydermia, and constrictions of fingers and toes. DNA Labs UAE offers a comprehensive […]
Symptoms and Testing information for COL4A3 Gene Alport syndrome autosomal recessive Genetic Test
Symptoms of COL4A3 Gene Alport Syndrome Autosomal Recessive Genetic Test Alport Syndrome is a genetic disorder that affects the kidney and can lead to chronic kidney disease and, eventually, kidney failure. It is caused by mutations in the COL4A3 gene, among others, and can be inherited in an autosomal recessive manner. This means that an […]
Symptoms and Testing information for COL4A4 Gene Alport syndrome autosomal recessive Genetic Test
Alport syndrome is a genetic disorder that significantly affects the kidneys, eyes, and ears, leading to a range of symptoms that can impact an individual’s quality of life. One of the genes associated with this condition is the COL4A4 gene, which, when mutated, can lead to the autosomal recessive form of Alport syndrome. Understanding the […]
Symptoms and Testing information for COL4A5 Gene Alport syndrome X-Linked Genetic Test
Alport Syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It primarily affects the basement membranes of the kidneys, the inner ear, and the eyes, leading to progressive loss of kidney function and other symptoms. The condition is typically inherited in an X-linked manner, which means the gene responsible for […]