Short Description

NGS genetic DNA test detecets for variant and mutation detection in KANSL1 gene for Koolen syndrome

PreTest Information

Clinical History of Patient who is going for KANSL1 Gene Koolen syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KANSL1 Gene Koolen syndrome NGS Genetic DNA Test gene KANSL1

Detail Description

KANSL1 Gene Koolen Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

KANSL1 gene is responsible for producing a protein that plays a crucial role in the development and functioning of the brain. Any mutation or alteration in this gene can result in Koolen Syndrome, a rare genetic disorder that affects the development of the brain and causes several physical and cognitive disabilities. The disorder is also known as KANSL1-related intellectual disability syndrome.

Symptoms of Koolen Syndrome

The symptoms of Koolen Syndrome can vary from person to person depending on the severity of the mutation. Some of the common symptoms include:

• Intellectual disability
• Delayed speech and language development
• Behavioral problems such as hyperactivity and anxiety
• Seizures
• Facial dysmorphism
• Heart defects
• Skeletal abnormalities

Diagnosis of Koolen Syndrome

Koolen Syndrome is diagnosed through genetic testing, which involves analyzing the KANSL1 gene to identify any mutations or alterations. Next-generation sequencing (NGS) is a powerful genetic testing technique that can accurately identify mutations in genes associated with rare genetic disorders such as Koolen Syndrome. NGS can also detect variations in multiple genes simultaneously, making it a more efficient and cost-effective approach to genetic testing.

Cost of KANSL1 Gene Koolen Syndrome NGS Genetic DNA Test in India

The cost of the KANSL1 Gene Koolen Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the testing laboratory and the specific type of NGS test used. However, compared to traditional genetic testing methods, NGS is a more cost-effective option as it can detect multiple gene variations in a single test.

Conclusion

Koolen Syndrome is a rare genetic disorder that can cause several physical and cognitive disabilities. Genetic testing, particularly NGS, is an efficient and cost-effective approach to diagnose Koolen Syndrome and identify any mutations in the KANSL1 gene. The cost of the KANSL1 Gene Koolen Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. Early diagnosis and intervention can help individuals with Koolen Syndrome receive appropriate treatment and support to manage their symptoms.

If you suspect that you or your child may have Koolen Syndrome, it is important to consult with a genetic counselor or healthcare provider who can guide you through the testing and diagnosis process.

Contact DNA Labs India for more information on genetic testing for rare genetic disorders such as Koolen Syndrome.