Short Description

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

PreTest Information

Clinical History of Patient who is going for PHYH 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

PHYH Gene Refsum Disease NGS Genetic DNA Test

Refsum disease is a rare genetic disorder that affects the metabolism of fatty acids. It is caused by a mutation in the PHYH gene, which encodes the enzyme phytanoyl-CoA hydroxylase. This enzyme is responsible for breaking down phytanic acid, a fatty acid found in certain foods, into a form that can be used by the body.

When the PHYH gene is mutated, phytanic acid builds up in the body and can cause a range of symptoms, including:

• Vision problems
• Hearing loss
• Balance and coordination difficulties
• Loss of sense of smell
• Skin problems
• Cardiac arrhythmias
• Peripheral neuropathy
• Ataxia

Refsum disease is diagnosed through a combination of clinical evaluation, biochemical testing, and genetic testing. One of the most effective ways to diagnose Refsum disease is through Next-Generation Sequencing (NGS) genetic DNA testing.

NGS testing allows for the analysis of multiple genes simultaneously, which can significantly increase the accuracy of a diagnosis. Additionally, NGS testing can be used to identify mutations in the PHYH gene that may not be detectable through other genetic testing methods.

The cost of a PHYH Gene Refsum Disease NGS Genetic DNA Test in India is approximately INR 20,000. While this may seem expensive, it is important to remember that early diagnosis and treatment of Refsum disease can significantly improve outcomes and quality of life for affected individuals.

Overall, if you or a loved one are experiencing any of the symptoms associated with Refsum disease, it is important to speak with a healthcare professional and consider genetic testing to determine the cause of these symptoms.

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 PHYH Gene Refsum disease NGS Genetic DNA Test