Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX7 gene for Refsum disease

PreTest Information

Clinical History of Patient who is going for PEX7 Gene Refsum disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Refsum disease

Detail Description

PEX7 Gene Refsum Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Refsum disease is a rare genetic disorder that affects the breakdown of certain fatty acids in the body. PEX7 gene mutation is one of the causes of Refsum disease. PEX7 gene codes for a protein that helps in the transportation of specific enzymes involved in the breakdown of fatty acids into the peroxisome.

NGS Genetic DNA Test is a diagnostic test that uses Next Generation Sequencing technology to sequence the entire coding region of PEX7 gene. This test helps in the identification of mutations in the PEX7 gene that cause Refsum disease.

Symptoms of Refsum Disease

The symptoms of Refsum disease usually appear in late childhood or early adulthood. The symptoms may vary from person to person but typically include:

• Retinitis pigmentosa (progressive vision loss)
• Sensory neuropathy (numbness and tingling in the hands and feet)
• Ataxia (lack of muscle coordination)
• Ichthyosis (scaly skin)
• Hearing loss

Diagnosis of Refsum Disease

The diagnosis of Refsum disease involves a thorough clinical evaluation, including a physical examination, medical history, and laboratory tests. Genetic testing is the most accurate way to diagnose Refsum disease.

The NGS Genetic DNA Test for PEX7 gene mutation is a reliable diagnostic test for Refsum disease. This test detects mutations in the PEX7 gene with high accuracy and sensitivity. The cost of the NGS Genetic DNA Test for PEX7 gene mutation is INR:20000.

Conclusion

Refsum disease is a rare genetic disorder that can cause significant disability and reduced quality of life. PEX7 gene mutation is one of the causes of Refsum disease. NGS Genetic DNA Test for PEX7 gene mutation is a reliable diagnostic test that helps in the identification of mutations in the PEX7 gene that cause Refsum disease. The cost of the NGS Genetic DNA Test for PEX7 gene mutation is INR:20000. Early diagnosis and management of Refsum disease can help improve the quality of life of affected individuals.

Contact DNA Labs India for more information about NGS Genetic DNA Test for PEX7 gene mutation.

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 PEX7 Gene Refsum disease NGS Genetic DNA Test