Short Description

NGS genetic DNA test detecets for variant and mutation detection in KDM6A gene for Kabuki syndrome type 2

PreTest Information

Clinical History of Patient who is going for KDM6A Gene Kabuki syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KDM6A Gene Kabuki syndrome type 2

Detail Description

DNA Labs India: KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test

Kabuki syndrome type 2 is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the KDM6A gene. DNA Labs India offers a Next Generation Sequencing (NGS) Genetic DNA Test to diagnose Kabuki syndrome type 2 and identify mutations in the KDM6A gene. The test is available at a cost of INR 20,000.

Symptoms of Kabuki Syndrome Type 2

Kabuki syndrome type 2 is characterized by a distinctive facial appearance, developmental delays, intellectual disability, and other physical abnormalities. The following are some of the common symptoms of Kabuki syndrome type 2:

• Abnormalities in the shape and positioning of the eyes
• Long eyelashes
• Large, prominent ears
• A small, upturned nose
• Cleft palate or other mouth abnormalities
• Short stature
• Heart defects
• Seizures

Diagnosis of Kabuki Syndrome Type 2

Kabuki syndrome type 2 is diagnosed based on a combination of clinical features and genetic testing. Clinical features may include the characteristic facial appearance, developmental delays, and other physical abnormalities. Genetic testing, such as the NGS Genetic DNA Test offered by DNA Labs India, can identify mutations in the KDM6A gene.

The KDM6A Gene

The KDM6A gene provides instructions for making a protein called lysine-specific demethylase 6A. This protein is involved in the regulation of gene expression, which is the process by which genes are turned on and off. Mutations in the KDM6A gene can disrupt this process, leading to the development of Kabuki syndrome type 2.

NGS Genetic DNA Test for Kabuki Syndrome Type 2

The NGS Genetic DNA Test offered by DNA Labs India is a comprehensive genetic test that can identify mutations in the KDM6A gene. The test uses state-of-the-art sequencing technology to analyze the entire coding region of the gene. The test is performed on a small blood sample and typically takes 2-3 weeks for results to be delivered.

Cost of the NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for Kabuki syndrome type 2 at DNA Labs India is INR 20,000. This includes the cost of the test and genetic counseling services to help patients and their families understand the results of the test.

Conclusion

Kabuki syndrome type 2 is a rare genetic disorder caused by mutations in the KDM6A gene. DNA Labs India offers a Next Generation Sequencing (NGS) Genetic DNA Test to diagnose Kabuki syndrome type 2 and identify mutations in the KDM6A gene. The test is available at a cost of INR 20,000 and includes genetic counseling services to help patients and their families understand the results of the test.

If you or a loved one are experiencing symptoms of Kabuki syndrome type 2, it is important to seek medical attention and consider genetic testing. Contact DNA Labs India for more information about the NGS Genetic DNA Test and other genetic testing services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for KDM6A Gene Kabuki syndrome type 2 NGS Genetic DNA Test