Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX13 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX13 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX13 Gene Zellweger syndrome

Detail Description

PEX13 Gene Zellweger Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

PEX13 gene is responsible for the production of a protein that is involved in the formation of peroxisomes. Peroxisomes are tiny organelles that are essential for the proper functioning of various organs in the body. Zellweger syndrome is a rare genetic disorder that occurs due to mutations in the PEX13 gene. It is an autosomal recessive disorder, which means that a person needs to inherit two copies of the mutated gene to develop the disease.

Symptoms of Zellweger Syndrome

The symptoms of Zellweger syndrome can vary from person to person, but some of the common symptoms include:

• Severe muscle weakness and poor muscle tone
• Poor feeding and difficulty gaining weight
• Seizures
• Developmental delays
• Vision problems
• Hearing loss
• Liver dysfunction

Diagnosis of Zellweger Syndrome

Zellweger syndrome is usually diagnosed in infancy or early childhood. The diagnosis is based on a combination of clinical symptoms, imaging studies, and laboratory tests. A blood test can be used to check for mutations in the PEX13 gene. A genetic counselor can help determine the risk of passing on the mutated gene to future children.

NGS Genetic DNA Test for Zellweger Syndrome

Next-generation sequencing (NGS) is a powerful tool for genetic testing. It can detect mutations in multiple genes simultaneously, including the PEX13 gene. The NGS genetic DNA test for Zellweger syndrome can help confirm the diagnosis and identify the specific mutation responsible for the disease. This information can be used to provide more accurate genetic counseling and inform future family planning decisions.

Cost of NGS Genetic DNA Test for Zellweger Syndrome in India

The cost of the NGS genetic DNA test for Zellweger syndrome in India is approximately INR 20000. The cost may vary depending on the specific laboratory and the extent of the testing required. However, it is important to note that the cost of genetic testing should not be a barrier to accessing appropriate medical care. Some insurance plans may cover the cost of genetic testing, and financial assistance may be available for those who cannot afford it.

Conclusion

Zellweger syndrome is a rare genetic disorder that can have severe consequences. Early diagnosis and appropriate medical care can help improve outcomes for affected individuals. The NGS genetic DNA test for Zellweger syndrome can help confirm the diagnosis and provide important information for genetic counseling and family planning decisions. The cost of genetic testing should not be a barrier to accessing appropriate medical care, and financial assistance may be available for those who need it.

For more information on genetic testing and counseling services, contact DNA Labs India.

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 PEX13 Gene Zellweger syndrome NGS Genetic DNA Test