Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX1 gene for Heimler syndrome type 1

PreTest Information

Clinical History of Patient who is going for PEX1 Gene Heimler syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX1 Gene Heimler syndrome type 1 NGS Genetic DNA Test gene PEX1

Detail Description

PEX1 Gene Heimler Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PEX1 Gene Heimler Syndrome Type 1 is a rare genetic disorder that affects various organs of the body including the liver, kidneys, brain, and eyes. This syndrome is caused by mutations in the PEX1 gene, which provides instructions for making a protein required for the normal functioning of peroxisomes. Peroxisomes are small structures in cells that help break down certain substances.

Symptoms of PEX1 Gene Heimler Syndrome Type 1

The symptoms of PEX1 Gene Heimler Syndrome Type 1 may vary depending on the severity of the disease. Some common symptoms include:

• Cognitive impairment or developmental delay
• Seizures
• Poor muscle tone
• Abnormalities in the liver or kidneys
• Visual problems
• Abnormalities in the bones and joints

Diagnosis of PEX1 Gene Heimler Syndrome Type 1

PEX1 Gene Heimler Syndrome Type 1 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a type of genetic test that can analyze multiple genes at once, making it an efficient way to diagnose this rare disease. Doctors may also perform other tests such as MRI, CT scans, or blood tests to confirm the diagnosis.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for PEX1 Gene Heimler Syndrome Type 1 in India is approximately INR 20000. However, the cost may vary depending on the laboratory and other factors.

Conclusion

PEX1 Gene Heimler Syndrome Type 1 is a rare genetic disorder that can cause severe complications. If you or a loved one is experiencing any of the symptoms associated with this syndrome, it is important to seek medical attention immediately. Genetic testing can help diagnose this disease and provide appropriate treatment options. To know more about NGS genetic DNA testing and its cost, you can contact DNA Labs India, a leading genetic testing laboratory in India.

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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 PEX1 Gene Heimler syndrome type 1 NGS Genetic DNA Test