Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX11B gene for Peroxisome biogenesis disorder 14B

PreTest Information

Clinical History of Patient who is going for PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX11B Gene Peroxisome biogenesis disorder 14B

Detail Description

PEX11B Gene Peroxisome Biogenesis Disorder 14B: NGS Genetic DNA Test

PEX11B gene is responsible for coding proteins that facilitate the formation of peroxisomes. Peroxisomes are essential cell organelles responsible for various metabolic functions such as lipid metabolism, detoxification, and reactive oxygen species (ROS) scavenging. Peroxisome biogenesis disorder 14B (PBD14B) is a rare genetic disorder caused by mutations in the PEX11B gene. PBD14B affects the formation and functioning of peroxisomes, leading to metabolic dysfunction and developmental abnormalities.

Symptoms of PBD14B

The symptoms of PBD14B can vary from person to person, and the severity of symptoms can also differ significantly. Some of the common symptoms of PBD14B include:

• Delayed development
• Seizures
• Impaired vision
• Hearing loss
• Liver dysfunction
• Abnormal bone growth

The symptoms of PBD14B can become apparent in infancy, childhood, or adulthood. In some cases, the symptoms may be mild and may not become apparent until later in life.

Diagnosis of PBD14B

The diagnosis of PBD14B is typically made through genetic testing. NGS (next-generation sequencing) technology can be used to sequence the PEX11B gene and identify any mutations that may be present. Other diagnostic tests, such as MRI scans and liver function tests, may also be used to evaluate the extent of the disorder and the severity of symptoms.

Cost of NGS Genetic DNA Test for PBD14B

The cost of NGS genetic DNA testing for PBD14B can vary depending on the testing facility and the location. In India, the cost of NGS genetic DNA testing for PBD14B is typically around INR 20,000.

Conclusion

PBD14B is a rare genetic disorder caused by mutations in the PEX11B gene, leading to peroxisome dysfunction and metabolic abnormalities. The symptoms of PBD14B can vary, and the diagnosis is typically made through genetic testing. NGS genetic DNA testing can identify any mutations in the PEX11B gene and help diagnose PBD14B. The cost of NGS genetic DNA testing for PBD14B in India is typically around INR 20,000.

It is essential to consult a genetic counselor or a medical professional if you suspect that you or someone you know may have PBD14B. Early diagnosis and treatment can significantly improve the quality of life for individuals with PBD14B.

For more information, contact DNA Labs India, which offers genetic testing services for various genetic disorders, including PBD14B.

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 PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic DNA Test