Short Description

NGS genetic DNA test detecets for variant and mutation detection in RYR1 gene for King-Denborough syndrome

PreTest Information

Clinical History of Patient who is going for RYR1 Gene King-Denborough syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RYR1 Gene King-Denborough syndrome

Detail Description

RYR1 Gene King-Denborough Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers RYR1 Gene King-Denborough Syndrome NGS Genetic DNA Test at a cost of INR 20000. This test helps in identifying the genetic mutations in the RYR1 gene, which are responsible for causing King-Denborough Syndrome. This is a rare genetic disorder that affects the muscles and the nervous system and causes various symptoms.

Symptoms of King-Denborough Syndrome

The symptoms of King-Denborough Syndrome can vary from person to person, but some of the common symptoms include:

• Weakness in the facial muscles
• Difficulty in swallowing
• Breathing difficulties
• Abnormal curvature of the spine
• Joint stiffness and contractures
• Delayed motor development
• Intellectual disability

These symptoms usually appear in early childhood and can worsen over time. In some cases, the symptoms can be life-threatening, especially if the breathing muscles are affected.

Diagnosis of King-Denborough Syndrome

King-Denborough Syndrome is diagnosed through a combination of clinical evaluation and genetic testing. The doctor will perform a physical examination and ask about the patient's medical history and family history. They may also order blood tests and imaging tests to rule out other conditions.

The genetic testing involves analyzing the DNA for mutations in the RYR1 gene. This is usually done through a blood sample or a cheek swab. The results of the genetic testing can confirm the diagnosis of King-Denborough Syndrome.

Cost of RYR1 Gene King-Denborough Syndrome NGS Genetic DNA Test

The cost of RYR1 Gene King-Denborough Syndrome NGS Genetic DNA Test at DNA Labs India is INR 20000. This test is performed using Next Generation Sequencing (NGS) technology, which allows for the analysis of multiple genes at once. The test can provide accurate and reliable results, which can help in the diagnosis and management of King-Denborough Syndrome.

Conclusion

King-Denborough Syndrome is a rare genetic disorder that can cause various symptoms, including muscle weakness, breathing difficulties, and intellectual disability. The RYR1 Gene King-Denborough Syndrome NGS Genetic DNA Test offered by DNA Labs India can help in the diagnosis of this condition and provide valuable information for the management of the symptoms. The cost of the test is INR 20000, and it is performed using NGS technology, which ensures accurate and reliable results.

If you or your loved one is experiencing any of the symptoms of King-Denborough Syndrome, it is important to consult a doctor and get tested for this condition. Early diagnosis and management can help in improving the quality of life and preventing complications.

Contact DNA Labs India today to schedule your RYR1 Gene King-Denborough Syndrome NGS Genetic DNA Test.

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 RYR1 Gene King-Denborough syndrome NGS Genetic DNA Test