Short Description

NGS genetic DNA test detecets for variant and mutation detection in RBBP8 gene for Jawad syndrome

PreTest Information

Clinical History of Patient who is going for RBBP8 Gene Jawad syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RBBP8 Gene Jawad syndrome NGS Genetic DNA Test gene RBBP8

Detail Description

RBBP8 Gene and Jawad Syndrome: NGS Genetic DNA Test Cost INR 20000

Jawad Syndrome is a rare genetic disorder that affects the development of the bones and joints. It is caused by mutations in the RBBP8 gene, which is responsible for repairing DNA damage. This syndrome is characterized by short stature, joint stiffness, and facial abnormalities.

If you or someone you know is experiencing symptoms of Jawad Syndrome, it is important to seek medical attention and consider genetic testing. DNA Labs India offers an NGS Genetic DNA Test that can detect mutations in the RBBP8 gene and diagnose Jawad Syndrome.

Symptoms of Jawad Syndrome

The symptoms of Jawad Syndrome can vary from person to person, but they typically include:

• Short stature
• Joint stiffness
• Facial abnormalities, such as a small jaw and a flat nasal bridge
• Delayed development of motor skills
• Difficulty with speech
• Hearing loss

These symptoms may become more pronounced over time, and can lead to mobility issues and other complications.

Diagnosis of Jawad Syndrome

Jawad Syndrome is diagnosed through genetic testing, which can detect mutations in the RBBP8 gene. This testing can be done through a blood or saliva sample, and the results can confirm a diagnosis of Jawad Syndrome.

It is important to note that genetic testing can also identify carriers of the RBBP8 gene mutation, which can help with family planning and genetic counseling.

NGS Genetic DNA Test Cost

The NGS Genetic DNA Test offered by DNA Labs India costs INR 20000. This test uses next-generation sequencing technology to analyze the DNA sample and detect mutations in the RBBP8 gene.

This test can provide a definitive diagnosis of Jawad Syndrome, which can help with treatment planning and management of symptoms. It can also identify carriers of the gene mutation, which can be valuable information for family planning.

Conclusion

Jawad Syndrome is a rare genetic disorder that can cause a range of symptoms, including short stature, joint stiffness, and facial abnormalities. Genetic testing can confirm a diagnosis of Jawad Syndrome and identify carriers of the RBBP8 gene mutation.

The NGS Genetic DNA Test offered by DNA Labs India is a valuable tool for diagnosing Jawad Syndrome and providing information for family planning. With a cost of INR 20000, this test is an affordable option for those seeking a definitive diagnosis of Jawad Syndrome.

If you or someone you know is experiencing symptoms of Jawad Syndrome, it is important to seek medical attention and consider genetic testing.

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 RBBP8 Gene Jawad syndrome NGS Genetic DNA Test