In the realm of genetic diagnostics, the advancement of technology has paved the way for the identification and understanding of rare genetic conditions that were once shrouded in mystery. Among these conditions is Temple-Baraitser Syndrome (TBS), a rare genetic disorder that has been linked to mutations in the KCNH1 gene. At DNA Labs UAE, we are at the forefront of providing comprehensive genetic testing services, including the KCNH1 Gene Temple-Baraitser Syndrome Genetic Test, designed to offer insights into this complex condition.
Symptoms of Temple-Baraitser Syndrome
Temple-Baraitser Syndrome is characterized by a spectrum of clinical manifestations, making it imperative for individuals to undergo genetic testing for an accurate diagnosis. The symptoms of TBS can vary widely among affected individuals but generally include the following:
- Intellectual Disability: Most individuals with TBS exhibit some degree of intellectual disability, which can range from mild to severe.
- Seizures: Epileptic seizures are a common symptom in individuals with TBS, often presenting in early childhood.
- Distinctive Facial Features: TBS is associated with unique facial characteristics, including wide-set eyes, a broad nasal bridge, and a prominent forehead.
- Abnormal Fingernails: Individuals with TBS may have thick, ridged, or absent fingernails, a hallmark feature of the syndrome.
- Developmental Delay: Developmental milestones, such as walking and talking, may be delayed in children with TBS.
- Motor Skills Impairment: Difficulties with coordination and motor skills are commonly observed in individuals with this syndrome.
It is important to note that the presence and severity of these symptoms can vary, and not all individuals with TBS will exhibit all of these features.
KCNH1 Gene Temple-Baraitser Syndrome Genetic Test
Understanding the genetic basis of Temple-Baraitser Syndrome is crucial for accurate diagnosis and management. The KCNH1 gene plays a vital role in the function of neurons and is implicated in the development of TBS. Mutations in this gene disrupt normal neurological development, leading to the symptoms associated with the syndrome. The KCNH1 Gene Temple-Baraitser Syndrome Genetic Test offered by DNA Labs UAE is a targeted genetic test designed to detect mutations in the KCNH1 gene that are associated with TBS.
This genetic test involves a simple blood draw or saliva sample from the individual suspected of having TBS. The sample is then analyzed in our state-of-the-art laboratory, using advanced genetic sequencing technologies to identify any mutations in the KCNH1 gene.
Cost of the Genetic Test
The cost of the KCNH1 Gene Temple-Baraitser Syndrome Genetic Test is 4400 AED. This price includes the collection of the sample, the genetic analysis, and a comprehensive report detailing the results of the test. Our team of genetic counselors is also available to provide guidance and support, helping individuals and families understand the implications of the test results.
Conclusion
Temple-Baraitser Syndrome is a rare but impactful genetic condition that necessitates a comprehensive approach to diagnosis and management. The KCNH1 Gene Temple-Baraitser Syndrome Genetic Test offered by DNA Labs UAE represents a critical tool in unraveling the genetic underpinnings of TBS, enabling affected individuals and their families to gain a deeper understanding of the condition and to explore potential management strategies. For more information or to schedule a test, please visit our website.
For further details and to schedule a genetic test for Temple-Baraitser Syndrome, please visit DNA Labs UAE.
