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DNA Labs India

DCXR Gene Pentosuria NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DCXR Gene Pentosuria NGS Genetic Test

Short Name: DCXR Pentosuria Test

Also known as: L-xylulose reductase deficiency test, DCXR gene analysis for pentosuria

DCXR Gene Pentosuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the DCXR gene for diagnosis of Pentosuria.

Test Code
2201
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample will be processed and analyzed for DCXR gene mutations.

Timeline: 3-4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling session recommended.
2
During the Test:Sample collection and DNA extraction.
3
After the Test:Analysis and report generation.

About This Test

Who Should Get This Test

To detect mutations in the DCXR gene for diagnosis of Pentosuria.

How to Prepare

  • Ensure proper labeling
  • Store sample at ambient temperature if on FTA card

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for metabolic disorders like Pentosuria can guide management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries by sample type
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: 48 hours at room temperature
FTA card: stable for months
Sample Rejection Criteria:
  • Insufficient sample
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the DCXR gene associated with Pentosuria.
📊

Pathogenic variant detected

Diagnosis of Pentosuria confirmed

📊

No pathogenic variant

Unlikely Pentosuria, consider other causes

⚠️ When to Consult a Doctor:

If symptoms suggestive of Pentosuria are present or family history exists.

Limitations

  • May not detect all variants
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minimal risks from blood draw
  • Possible anxiety from results

Interfering Factors

  • Sample contamination
  • Degraded DNA

Frequently Asked Questions

What is DCXR Gene Pentosuria?
DCXR Gene Pentosuria is a rare genetic disorder characterized by the presence of pentose sugars in urine due to mutations in the DCXR gene.
What causes Pentosuria?
It is caused by mutations in the DCXR gene, which leads to deficiency of the enzyme L-xylulose reductase, affecting pentose sugar metabolism.
What are the symptoms of DCXR Gene Pentosuria?
Symptoms include abdominal pain, diarrhea, failure to thrive, frequent urination, increased thirst, nausea, vomiting, pale skin, poor weight gain, and fatigue.
How is Pentosuria diagnosed?
Diagnosis is through genetic testing, specifically the DCXR Gene NGS Genetic Test, which analyzes DNA for mutations.
What is the cost of the DCXR Gene NGS Genetic Test?
The test costs INR 20000 in India, including sample collection and genetic counseling.
Is the test covered by insurance?
Insurance coverage may vary; it is advisable to check with your provider as genetic tests are often not fully covered.
How long does it take to get results?
Reports are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample or extracted DNA or one drop of blood on an FTA card can be used.
Is home sample collection available?
Yes, free home collection is available for online bookings across India.
What are the treatment options for Pentosuria?
Treatment focuses on symptom management and supportive care, as there is no cure. Genetic counseling is recommended.
Who should consider this genetic test?
Individuals with symptoms of pentosuria or a family history of the disorder should consider testing.
How accurate is the NGS genetic test for Pentosuria?
NGS technology provides high accuracy for detecting mutations in the DCXR gene, but interpretation by a genetic counselor is essential.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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