Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPS6KA3 gene for Coffin-Lowry syndrome

PreTest Information

Clinical History of Patient who is going for RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPS6KA3 Gene Coffin-Lowry syndrome

Detail Description

RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Coffin-Lowry Syndrome is a rare genetic disorder that affects the X chromosome. The syndrome primarily affects males and is characterized by intellectual disability, facial and skeletal abnormalities, and delayed growth and development. The syndrome is caused by a mutation in the RPS6KA3 gene, which encodes for a protein that is involved in the signaling pathways within cells.

Symptoms of Coffin-Lowry Syndrome

The symptoms of Coffin-Lowry Syndrome can vary widely from person to person, but some of the most common symptoms include:

• Intellectual disability
• Delayed speech and language development
• Facial abnormalities, including a prominent forehead, wide-set eyes, and a down-turned mouth
• Skeletal abnormalities, including short stature, scoliosis, and abnormal curvature of the spine
• Hyperactive behavior

Diagnosis of Coffin-Lowry Syndrome

Coffin-Lowry Syndrome is diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor will perform a physical examination to look for characteristic facial and skeletal abnormalities, and will also review the patient's medical history to look for developmental delays and other symptoms of the syndrome. Genetic testing, such as NGS Genetic DNA Test, can be used to confirm a diagnosis of Coffin-Lowry Syndrome by identifying mutations in the RPS6KA3 gene.

Cost of NGS Genetic DNA Test for Coffin-Lowry Syndrome

The cost of NGS Genetic DNA Test for Coffin-Lowry Syndrome can vary depending on the testing facility and location. In India, the cost of the test typically ranges from INR 20,000 to INR 30,000. It is important to check with your insurance provider to see if the test is covered by your plan, as some insurance plans may cover the cost of genetic testing.

Conclusion

Coffin-Lowry Syndrome is a rare genetic disorder that can cause significant developmental delays and physical abnormalities. While there is no cure for the syndrome, early diagnosis and intervention can help improve outcomes for affected individuals. NGS Genetic DNA Test can be used to confirm a diagnosis of Coffin-Lowry Syndrome and can help guide treatment and management of the syndrome. If you suspect that you or a loved one may have Coffin-Lowry Syndrome, it is important to consult with a doctor and undergo genetic testing to confirm a diagnosis and develop a treatment plan.

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 RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic DNA Test