Short Description

NGS genetic DNA test detecets for variant and mutation detection in HYLS1 gene for Hydrolethalus syndrome

PreTest Information

Clinical History of Patient who is going for HYLS1 Gene Hydrolethalus syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HYLS1 Gene Hydrolethalus syndrome NGS Genetic DNA Test gene HYLS1

Detail Description

HYLS1 Gene Hydrolethalus Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Hydrolethalus syndrome (HLS) is a rare genetic disorder that is caused by mutations in the HYLS1 gene. The condition is characterized by abnormalities in the development of the brain and facial features, as well as limb defects and other anomalies. HLS is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Symptoms of Hydrolethalus Syndrome

The symptoms of HLS can vary widely from person to person, but some of the most common signs and symptoms include:

• Severe abnormalities in the development of the brain, which can lead to intellectual disability or other neurological problems
• Facial abnormalities, such as cleft lip or palate, a small head size, or a flattened nose
• Limb defects, such as missing or underdeveloped fingers, toes, or limbs
• Other abnormalities, such as heart defects or problems with the kidneys or digestive system

Diagnosis of Hydrolethalus Syndrome

Diagnosing HLS can be challenging, as the condition is rare and the symptoms can be similar to those of other genetic disorders. However, a genetic test can confirm the presence of mutations in the HYLS1 gene, which is the primary cause of the condition.

NGS Genetic DNA Test for Hydrolethalus Syndrome

Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it allows for the analysis of large amounts of genetic data in a relatively short amount of time. NGS can be used to sequence the HYLS1 gene and identify mutations that may be associated with HLS.

Cost of NGS Genetic DNA Test for Hydrolethalus Syndrome in India

The cost of an NGS genetic DNA test for HLS in India can vary depending on the specific laboratory and testing protocol used. However, in general, the cost of the test is likely to be around INR 20,000 or more.

Conclusion

Hydrolethalus syndrome is a rare genetic disorder that can cause severe abnormalities in the development of the brain, facial features, and limbs. While diagnosing the condition can be challenging, genetic testing, such as an NGS DNA test, can help identify mutations in the HYLS1 gene that may be associated with the condition. If you or someone you know is experiencing symptoms of HLS, it is important to speak with a healthcare professional to discuss testing and treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS DNA testing for Hydrolethalus syndrome. Our team of experts can provide guidance and support throughout the testing process and help you understand your results. Contact us today to learn more.