Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX6 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX6 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX6 Gene Zellweger syndrome

Detail Description

PEX6 Gene and Zellweger Syndrome: NGS Genetic DNA Test Cost and Symptoms Diagnosis

Zellweger syndrome is a rare genetic disorder that affects the metabolism and development of the brain, liver and kidneys. It is caused by mutations in one of several genes, including the PEX6 gene. The PEX6 gene provides instructions for making a protein that is involved in the formation of peroxisomes, which are structures that break down toxic substances in the body.

NGS Genetic DNA testing is a powerful tool that can be used to diagnose Zellweger syndrome and other genetic disorders. This type of testing involves sequencing an individual's entire genome or specific genes of interest to identify mutations that may be causing symptoms or increasing the risk of developing a disease.

PEX6 Gene and Zellweger Syndrome Symptoms

Zellweger syndrome symptoms can vary from person to person and may include:

• Poor muscle tone
• Seizures
• Developmental delay
• Abnormal facial features
• Jaundice
• Hearing and vision problems

PEX6 gene mutations have been associated with Zellweger syndrome and other related disorders, including neonatal adrenoleukodystrophy and infantile Refsum disease. These disorders are all part of a group of conditions called peroxisome biogenesis disorders.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing varies depending on the specific test and laboratory performing the analysis. However, on average, the cost of NGS Genetic DNA testing for PEX6 gene mutations and Zellweger syndrome diagnosis can range from INR 20,000 to INR 30,000.

PEX6 Gene and Zellweger Syndrome Diagnosis

Diagnosing Zellweger syndrome can be challenging, as symptoms may vary and can be similar to other conditions. However, NGS Genetic DNA testing can be used to identify PEX6 gene mutations that are associated with Zellweger syndrome.

NGS Genetic DNA testing involves taking a small blood or saliva sample from the individual being tested. The sample is then analyzed in a laboratory to identify specific mutations in the PEX6 gene or other genes of interest. Results from the test can help healthcare providers diagnose Zellweger syndrome or other related disorders.

Conclusion

Zellweger syndrome is a rare genetic disorder that can have serious health consequences. NGS Genetic DNA testing can be used to diagnose the condition and identify PEX6 gene mutations that may be associated with the disease. While the cost of testing may vary, it is an important tool that can help healthcare providers provide accurate diagnoses and better understand genetic disorders.

If you suspect that you or a loved one may have Zellweger syndrome or another genetic disorder, it is important to speak with a healthcare provider and consider NGS Genetic DNA testing.

At DNA Labs India, we offer a range of NGS Genetic DNA testing services at affordable prices. Contact us today to learn more about our services and how we can help you get the answers you need.

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 PEX6 Gene Zellweger syndrome NGS Genetic DNA Test