Test Name	PEX10 Gene Zellweger syndrome NGS Genetic DNA Test
Test type	Neurologist
Pre-test Information	Clinical History of Patient who is going for PEX10 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX10 Gene Zellweger syndrome
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX10 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX10 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX10 Gene Zellweger syndrome

Detail Description

PEX10 Gene and Zellweger Syndrome: NGS Genetic DNA Test Cost in India

Introduction

Zellweger syndrome is a rare genetic disorder that affects infants. It is a part of a group of conditions known as peroxisomal biogenesis disorders (PBD). This disorder is caused by mutations in one of 13 genes that are involved in the formation and functioning of peroxisomes in cells. One of these genes is PEX10, which encodes a protein that is essential for the proper functioning of peroxisomes. In this blog, we will discuss PEX10 gene, Zellweger syndrome, symptoms, diagnosis, and the cost of NGS Genetic DNA Test in India.

PEX10 Gene

PEX10 gene is located on chromosome 1 and encodes a protein that is involved in the formation and functioning of peroxisomes. Peroxisomes are small organelles that are present in all eukaryotic cells. They are responsible for a variety of metabolic processes, such as the breakdown of fatty acids and the detoxification of harmful substances. Mutations in the PEX10 gene can lead to the formation of abnormal peroxisomes or the absence of peroxisomes altogether. This can result in the accumulation of toxic substances in cells, which can cause damage to tissues and organs.

Zellweger Syndrome

Zellweger syndrome is a rare genetic disorder that affects approximately 1 in 50,000 to 100,000 live births. It is characterized by the absence or malfunction of peroxisomes in cells. The symptoms of Zellweger syndrome can vary widely, but they typically include:

• Poor muscle tone
• Seizures
• Hearing and vision loss
• Liver dysfunction
• Developmental delay

There is currently no cure for Zellweger syndrome, and treatment is supportive and symptomatic.

Diagnosis

Zellweger syndrome can be diagnosed prenatally or after birth. Prenatal diagnosis can be performed by chorionic villus sampling (CVS) or amniocentesis. After birth, diagnosis can be confirmed by biochemical testing and genetic testing. NGS Genetic DNA Test is a type of genetic testing that can be used to diagnose Zellweger syndrome. This test uses next-generation sequencing technology to analyze multiple genes simultaneously. It can detect mutations in the PEX10 gene that are associated with Zellweger syndrome with a high degree of accuracy.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA Test in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of NGS Genetic DNA Test for Zellweger syndrome in India is approximately INR 20,000.

Conclusion

PEX10 gene is essential for the proper functioning of peroxisomes in cells. Mutations in this gene can lead to the formation of abnormal peroxisomes or the absence of peroxisomes altogether, which can cause Zellweger syndrome. Symptoms of Zellweger syndrome include poor muscle tone, seizures, hearing and vision loss, liver dysfunction, and developmental delay. NGS Genetic DNA Test can be used to diagnose Zellweger syndrome prenatally or after birth. The cost of NGS Genetic DNA Test in India is approximately INR 20,000.

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 PEX10 Gene Zellweger syndrome NGS Genetic DNA Test