Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRKAR1A gene for Acrodysostosis type 1, with or without hormone resistance

PreTest Information

Clinical History of Patient who is going for PRKAR1A Gene Acrodysostosis type 1, with or without hormone resistance NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKAR1A Gene Acrodysostosis type 1, with or without hormone resistance NGS Genetic DNA Test gene PRKAR1A

Detail Description

PRKAR1A Gene Acrodysostosis Type 1, with or without Hormone Resistance: NGS Genetic DNA Test Cost INR 20,000

Acrodysostosis is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the PRKAR1A gene that codes for the protein kinase A regulatory subunit 1 alpha. This gene is responsible for regulating the activity of protein kinase A, which is involved in many cellular processes, including cell growth and differentiation.

Acrodysostosis type 1 can occur with or without hormone resistance. Hormone resistance means that the body does not respond properly to certain hormones, such as those that regulate growth and development.

Symptoms of Acrodysostosis Type 1

Acrodysostosis type 1 can cause a range of physical and developmental symptoms, including:

• Short stature
• Abnormal bone growth
• Small hands and feet
• Short fingers and toes
• Bowed or curved bones
• Delayed development of motor skills
• Intellectual disability
• Speech and language delays
• Hearing loss
• Vision problems
• Hormonal imbalances

Diagnosis of Acrodysostosis Type 1

Diagnosis of acrodysostosis type 1 can involve a range of tests, including:

• Physical examination to assess bone growth and other physical symptoms
• X-rays or other imaging tests to visualize bone abnormalities
• Hormone tests to assess hormone levels and function
• Genetic testing to identify mutations in the PRKAR1A gene

NGS Genetic DNA Test for Acrodysostosis Type 1

Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the analysis of multiple genes simultaneously. This makes it an effective diagnostic tool for rare genetic disorders such as acrodysostosis type 1.

The NGS genetic DNA test for acrodysostosis type 1 involves sequencing the PRKAR1A gene to identify mutations that may be causing the disorder. This test can be performed on a blood or saliva sample.

Cost of NGS Genetic DNA Test for Acrodysostosis Type 1

The cost of the NGS genetic DNA test for acrodysostosis type 1 in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional tests or services that may be required.

Conclusion

Acrodysostosis type 1 is a rare genetic disorder that can cause a range of physical and developmental symptoms. Diagnosis of this disorder may involve a range of tests, including NGS genetic DNA testing to identify mutations in the PRKAR1A gene. The cost of this test in India is typically around INR 20,000.

If you or a loved one are experiencing symptoms of acrodysostosis type 1, it is important to consult with a healthcare professional or genetic counselor to determine the most appropriate diagnostic and treatment options.

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 PRKAR1A Gene Acrodysostosis type 1, with or without hormone resistance NGS Genetic DNA Test