Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPIA gene for Ribose 5-phosphate isomerase deficiency

PreTest Information

Clinical History of Patient who is going for RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ribose 5-phosphate isomerase deficiency

Detail Description

DNA Labs India: RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test

At DNA Labs India, we offer a comprehensive NGS Genetic DNA Test for RPIA Gene Ribose 5-Phosphate Isomerase Deficiency. This test is designed to help diagnose individuals who may be experiencing symptoms associated with this genetic condition.

What is RPIA Gene Ribose 5-Phosphate Isomerase Deficiency?

Ribose 5-phosphate isomerase A (RPIA) is an enzyme that helps convert ribose 5-phosphate into ribulose 5-phosphate, which is an important step in the biosynthesis of nucleotides and coenzymes. RPIA gene mutations can lead to a deficiency of this enzyme, which can cause a range of symptoms including:

• Developmental delay
• Intellectual disability
• Seizures
• Microcephaly (small head size)
• Global developmental delay
• Failure to thrive

Diagnosis of RPIA Gene Ribose 5-Phosphate Isomerase Deficiency

The diagnosis of RPIA Gene Ribose 5-Phosphate Isomerase Deficiency can be made through genetic testing. At DNA Labs India, we offer an NGS Genetic DNA Test that analyzes the RPIA gene and can identify mutations that may be causing the condition. This test is a simple blood test that can be done in the comfort of your doctor's office or at one of our partner labs.

Cost of the RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test

The cost of the RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test is INR 20,000. This includes the cost of the test, as well as any necessary counseling and support from our team of genetic counselors.

Why Choose DNA Labs India?

At DNA Labs India, we are committed to providing our clients with the highest quality genetic testing services at an affordable price. Our team of highly trained genetic counselors and laboratory technicians use the latest technology to ensure accurate and reliable test results. We also offer personalized counseling and support to help individuals and families understand their test results and make informed decisions about their healthcare.

Contact Us

If you or a loved one is experiencing symptoms of RPIA Gene Ribose 5-Phosphate Isomerase Deficiency, contact DNA Labs India today to learn more about our NGS Genetic DNA Test. Our team of experts is here to help you get the answers you need to make informed decisions about your health.

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 RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic DNA Test