Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRPS1 gene for Deafness, X-linked type 1

PreTest Information

Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB13

Detail Description

PRPS1 Gene Deafness, X-linked type 1 NGS Genetic DNA Test

Deafness is a condition that affects a significant portion of the population worldwide. While some cases of deafness can be attributed to environmental factors, others have a genetic basis. One such genetic cause of deafness is X-linked deafness type 1, which is caused by mutations in the PRPS1 gene. This condition affects males more frequently than females, as the PRPS1 gene is located on the X chromosome.

The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1. This enzyme is important for the production of nucleotides, which are the building blocks of DNA. Mutations in the PRPS1 gene can lead to a reduction in the amount or activity of this enzyme, which can affect the development and function of the inner ear.

Symptoms of X-linked Deafness type 1

Individuals with X-linked deafness type 1 may experience a range of symptoms, including:

• Profound deafness from birth or early childhood
• Difficulty with speech and language development
• Balance problems
• Tinnitus (ringing in the ears)
• Abnormalities in the structure of the inner ear

Diagnosis of X-linked Deafness type 1

Diagnosis of X-linked deafness type 1 involves a thorough evaluation of the individual's medical history, family history, and symptoms. Genetic testing can be used to confirm the diagnosis and identify the specific mutation in the PRPS1 gene.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for X-linked deafness type 1 can vary depending on the provider and location. At DNA Labs India, the cost for this test is INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the PRPS1 gene and identify any mutations that may be causing the individual's deafness.

Conclusion

X-linked deafness type 1 is a genetic condition that can cause profound deafness in affected individuals. Genetic testing can help to confirm the diagnosis and identify the specific mutation in the PRPS1 gene. NGS genetic DNA testing is a reliable and cost-effective option for individuals who suspect they may have X-linked deafness type 1.

For more information about X-linked deafness type 1 and NGS genetic DNA testing, 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 PRPS1 Gene Deafness, X-linked type 1 NGS Genetic DNA Test