Short Description

NGS genetic DNA test detecets for variant and mutation detection in DCXR gene for Pentosuria

PreTest Information

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

Detail Description

DCXR Gene Pentosuria NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DCXR gene pentosuria is a rare genetic disorder that affects the metabolism of pentose sugars. It is caused by mutations in the DCXR gene. This disorder is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene – one from each parent – to develop the disorder.

Symptoms of DCXR Gene Pentosuria

DCXR gene pentosuria is characterized by the presence of pentose sugars in the urine. Other symptoms of this disorder may include:

• Abdominal pain
• Diarrhea
• Failure to thrive
• Frequent urination
• Increased thirst
• Nausea and vomiting
• Pale or yellowish skin
• Poor weight gain
• Weakness or fatigue

Diagnosis of DCXR Gene Pentosuria

DCXR gene pentosuria can be diagnosed through genetic testing. A DNA sample is collected from the patient and analyzed for mutations in the DCXR gene. If mutations are found, the patient is diagnosed with DCXR gene pentosuria.

NGS Genetic DNA Test Cost INR:20000

The NGS Genetic DNA Test for DCXR gene pentosuria costs INR:20000 in India. This cost includes the collection of the DNA sample, analysis of the sample for mutations in the DCXR gene, and the interpretation of the results by a qualified genetic counselor.

It is important to note that this test may not be covered by insurance, and patients should check with their insurance provider before undergoing testing.

Conclusion

DCXR gene pentosuria is a rare genetic disorder that affects the metabolism of pentose sugars. Symptoms of this disorder may include abdominal pain, diarrhea, failure to thrive, frequent urination, increased thirst, nausea and vomiting, pale or yellowish skin, poor weight gain, and weakness or fatigue. Diagnosis of DCXR gene pentosuria can be done through genetic testing, which costs INR:20000 in India.

If you suspect that you or your child may have DCXR gene pentosuria, it is important to speak with a qualified genetic counselor who can help you understand the testing process and interpret the results.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for DCXR gene pentosuria. Our team of experienced genetic counselors and scientists is dedicated to providing accurate and reliable testing services to our clients.

Contact us today to learn more about our services and how we can help you.