Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIGT gene for Multiple congenital anomalies-hypotonia-seizures syndrome type 3

PreTest Information

Clinical History of Patient who is going for PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Detail Description

PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PIGT gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 (MCAHS3) is a rare genetic disorder that affects various parts of the body, including the brain, muscles, and bones. This disorder is caused by mutations in the PIGT gene, which plays a crucial role in the production of glycosylphosphatidylinositol (GPI) anchors, which attach proteins to the cell membrane.

Symptoms of PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3

The symptoms of MCAHS3 can vary widely from person to person. Some of the most common symptoms include:

• Hypotonia (low muscle tone)
• Seizures
• Developmental delay
• Intellectual disability
• Dysmorphic facial features
• Abnormal skeletal development

Diagnosis of PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3

The diagnosis of MCAHS3 is usually made through genetic testing. This can involve sequencing the PIGT gene to look for mutations or using a technique called next-generation sequencing (NGS) to examine multiple genes at once. Doctors may also use imaging tests, such as X-rays or MRI scans, to look for skeletal abnormalities or brain abnormalities.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 in India is approximately INR 20000. This cost may vary depending on the specific laboratory or clinic where the test is performed. It is important to note that genetic testing is often not covered by insurance, so patients should check with their provider to determine if they will need to pay out-of-pocket for the test.

Treatment for PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3

Currently, there is no cure for MCAHS3. Treatment is focused on managing the symptoms of the disorder. For example, antiepileptic medications may be prescribed to control seizures, while physical therapy can help improve muscle tone and coordination. In some cases, surgery may be necessary to correct skeletal abnormalities or other physical deformities.

Conclusion

PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 is a rare genetic disorder that can cause a range of physical and developmental abnormalities. Genetic testing, such as NGS, is necessary to diagnose the disorder, and treatment is focused on managing symptoms. If you or a loved one is experiencing symptoms of MCAHS3, it is important to speak with a medical professional to determine the appropriate course of action.

At DNA Labs India, we offer NGS genetic DNA testing for PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3. Our experienced team of genetic counselors and scientists can help you understand your results and provide guidance on next steps. Contact us today to learn more about our services.

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 PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 NGS Genetic DNA Test