Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSD17B4 gene for Perrault syndrome

PreTest Information

Clinical History of Patient who is going for HSD17B4 Gene Perrault syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B4 Gene Perrault syndrome

Detail Description

HSD17B4 Gene Perrault Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Genetic disorders have always been a topic of interest for scientists and medical professionals. With advancements in technology, genetic testing has become more accessible and affordable. DNA Labs India is a leading provider of genetic testing services in India. In this blog post, we will discuss the HSD17B4 gene, Perrault syndrome, NGS genetic DNA test cost, symptoms, and diagnosis.

What is the HSD17B4 Gene?

The HSD17B4 gene is responsible for producing an enzyme called peroxisomal multifunctional enzyme type 2 (PMEP2). This enzyme is involved in the breakdown of fatty acids and the production of energy. Mutations in the HSD17B4 gene can lead to a variety of disorders, including Perrault syndrome.

What is Perrault Syndrome?

Perrault syndrome is a rare genetic disorder that affects both males and females. It is characterized by hearing loss, ovarian dysfunction, and neurological problems. There are two types of Perrault syndrome, type 1 and type 2. Type 1 is caused by mutations in the HSD17B4 gene, while type 2 is caused by mutations in the CLPP gene.

NGS Genetic DNA Test Cost INR:20000

DNA Labs India offers NGS genetic DNA testing for Perrault syndrome at a cost of INR 20,000. NGS stands for next-generation sequencing, which is a high-throughput DNA sequencing technology that allows for the analysis of multiple genes simultaneously. This test can detect mutations in the HSD17B4 gene and provide an accurate diagnosis of Perrault syndrome.

Symptoms of Perrault Syndrome

The symptoms of Perrault syndrome can vary depending on the type and severity of the disorder. Common symptoms include:

• Hearing loss
• Ovarian dysfunction
• Neurological problems
• Delayed puberty
• Short stature
• Heart defects

Diagnosis of Perrault Syndrome

Diagnosis of Perrault syndrome involves a combination of clinical evaluation, genetic testing, and imaging studies. DNA testing is the most reliable method for diagnosing the disorder. NGS genetic DNA testing offered by DNA Labs India can accurately detect mutations in the HSD17B4 gene and provide a definitive diagnosis of Perrault syndrome.

Conclusion

Perrault syndrome is a rare genetic disorder that can have serious consequences if left untreated. DNA Labs India offers NGS genetic DNA testing for Perrault syndrome at an affordable cost of INR 20,000. This test can accurately detect mutations in the HSD17B4 gene and provide an accurate diagnosis of the disorder. If you or a loved one is experiencing symptoms of Perrault syndrome, it is important to seek medical attention and get tested as soon as possible.

For more information on NGS genetic DNA testing for Perrault syndrome or other genetic disorders, contact DNA Labs India today.

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 HSD17B4 Gene Perrault syndrome NGS Genetic DNA Test