Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIGN gene for Multiple congenital anomalies-hypotonia-seizures syndrome type 1

PreTest Information

Clinical History of Patient who is going for PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 NGS Genetic DNA Test gene PIGN

Detail Description

PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 NGS Genetic DNA Test

PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 is a rare genetic disorder that affects a small number of people around the world. The disorder is caused by a mutation in the PIGN gene and is characterized by multiple congenital anomalies, hypotonia, and seizures. This condition can be diagnosed with the help of NGS Genetic DNA testing, which is available at DNA Labs India at a cost of INR 20,000.

Symptoms of PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1

The symptoms of PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 can vary from person to person. Some of the common symptoms include:

• Facial dysmorphism
• Multiple congenital anomalies
• Hypotonia
• Seizures
• Intellectual disability
• Musculoskeletal anomalies

These symptoms can be severe or mild, depending on the individual. If you or your child exhibits any of these symptoms, it is important to consult a doctor immediately.

Diagnosis of PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1

Diagnosing PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 can be challenging, as the symptoms can be similar to other disorders. However, with the help of NGS Genetic DNA testing, it is possible to diagnose this disorder accurately.

NGS Genetic DNA testing is a non-invasive and painless procedure that involves collecting a small sample of blood or saliva. The sample is then analyzed in a laboratory to look for mutations in the PIGN gene. If a mutation is found, it confirms the diagnosis of PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1.

Cost of PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 NGS Genetic DNA Test

The cost of the PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 NGS Genetic DNA Test at DNA Labs India is INR 20,000. This cost includes the sample collection, analysis, and a detailed report of the results.

Conclusion

PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 is a rare genetic disorder that can cause multiple congenital anomalies, hypotonia, and seizures. With the help of NGS Genetic DNA testing, it is possible to diagnose this disorder accurately. The cost of this test at DNA Labs India is INR 20,000. If you or your child exhibits any symptoms of this disorder, it is important to consult a doctor immediately.