Short Description

NGS genetic DNA test detecets for variant and mutation detection in NBAS gene for Short stature, optic nerve atrophy, and Pelger-Huet anomaly

PreTest Information

Clinical History of Patient who is going for NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly NGS Genetic DNA Test gene NBAS

Detail Description

NBAS Gene Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly NGS Genetic DNA Test

DNA Labs India offers an NGS Genetic DNA Test for NBAS Gene that can help diagnose short stature, optic nerve atrophy, and Pelger-Huet anomaly. This test is available at a cost of INR 20,000.

What is NBAS Gene?

NBAS Gene is a gene that provides instructions for producing a protein called neuroblastoma-amplified sequence (NBAS). This protein is involved in the formation of the Golgi apparatus, which is responsible for processing and packaging proteins in the cell. Mutations in the NBAS Gene can cause a variety of health problems, including short stature, optic nerve atrophy, and Pelger-Huet anomaly.

What are the Symptoms of NBAS Gene Mutations?

Symptoms of NBAS Gene mutations can vary depending on the specific mutation and the severity of the condition. Some common symptoms include:

• Short stature
• Optic nerve atrophy
• Pelger-Huet anomaly
• Delayed speech and language development
• Developmental delays
• Intellectual disability
• Behavioral problems

How is NBAS Gene Mutations Diagnosed?

NBAS Gene mutations can be diagnosed through genetic testing. This involves analyzing a sample of DNA from the patient to look for mutations in the NBAS Gene. The NGS Genetic DNA Test offered by DNA Labs India can help diagnose NBAS Gene mutations that cause short stature, optic nerve atrophy, and Pelger-Huet anomaly.

Conclusion

NBAS Gene mutations can cause a variety of health problems, including short stature, optic nerve atrophy, and Pelger-Huet anomaly. DNA Labs India offers an NGS Genetic DNA Test for NBAS Gene that can help diagnose these conditions. This test is available at a cost of INR 20,000. If you or someone you know is experiencing symptoms of NBAS Gene mutations, it is important to speak with a healthcare professional and consider genetic testing.