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 NGS Genetic DNA Test gene KDM6A

Detail Description

KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Kabuki syndrome is a rare genetic disorder that affects multiple systems of the body, including the development of the face, skeleton, and immune and nervous systems. Kabuki syndrome is caused by mutations in the KMT2D and KDM6A genes. Kabuki syndrome type 2 is caused by mutations in the KDM6A gene.

Symptoms of Kabuki Syndrome Type 2

The symptoms of Kabuki syndrome type 2 can vary greatly from person to person, but some common symptoms include:

• Distinct facial features, including arched eyebrows, long eyelashes, and a flattened nose bridge
• Delayed development and intellectual disability
• Short stature
• Abnormalities in the skeleton, including scoliosis and other spinal abnormalities
• Hearing loss
• Heart defects
• Immunodeficiency
• Recurrent infections

Diagnosis of Kabuki Syndrome Type 2

Diagnosis of Kabuki syndrome type 2 can be challenging, as the symptoms can be variable and may not present until later in life. However, genetic testing can be used to confirm a diagnosis. Specifically, next-generation sequencing (NGS) technology can be used to sequence the KDM6A gene and identify any mutations.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for Kabuki syndrome type 2 is approximately INR 20,000 in India. This cost may vary depending on the laboratory and specific testing methods used.

Benefits of Genetic Testing

Genetic testing can provide many benefits for individuals with Kabuki syndrome type 2 and their families. These benefits include:

• Confirmation of a diagnosis, which can help individuals and families better understand the condition and its associated risks
• Identification of potential health risks and complications, which can help with early intervention and treatment
• Guidance for family planning and genetic counseling
• Access to clinical trials and experimental treatments

Conclusion

Kabuki syndrome type 2 is a rare genetic disorder that can cause a variety of symptoms affecting multiple systems of the body. Genetic testing, specifically NGS sequencing of the KDM6A gene, can confirm a diagnosis and provide many benefits for individuals and families. The cost of an NGS genetic DNA test for Kabuki syndrome type 2 is approximately INR 20,000 in India.

If you suspect that you or a loved one may have Kabuki syndrome type 2, it is important to speak with a healthcare professional and consider genetic testing to confirm a diagnosis and receive appropriate care and support.

For more information about genetic testing and Kabuki syndrome type 2, contact DNA Labs India today.