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APRT Gene Adenine phosphoribosyltransferase deficiency NGS Genetic Test

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APRT Gene Adenine phosphoribosyltransferase deficiency NGS Genetic Test

Also known as: APRT deficiency, Adenine phosphoribosyltransferase deficiency

APRT Gene Adenine phosphoribosyltransferase deficiency 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose APRT deficiency by identifying genetic mutations in the APRT gene, allowing for early intervention and management of the associated metabolic disorder to prevent kidney damage and other complications.

Test Code
1876
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required, but inform the healthcare provider about any medications or medical conditions.

Method: Blood draw

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding, and avoid strenuous activity with the arm.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:No special preparation required, but provide a detailed clinical history and family pedigree during genetic counseling.
2
During the Test:The test involves DNA sequencing from the collected blood sample using NGS technology in a laboratory setting.
3
After the Test:Wait for the report delivery in 3-4 weeks and schedule a follow-up consultation with your doctor to discuss results and management options.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose APRT deficiency by identifying genetic mutations in the APRT gene, allowing for early intervention and management of the associated metabolic disorder to prevent kidney damage and other complications.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for APRT deficiency is crucial for early diagnosis and management of metabolic disorders, helping to prevent complications like chronic kidney disease."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw

Sample Stability

Blood sample: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods under appropriate storage conditions
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Improper labeling or documentation
  • Sample contamination

Understanding Your Results

Genetic test results should be interpreted by a qualified healthcare professional in the context of the patient's clinical history, symptoms, and family background.
Positive: Pathogenic mutation detected, confirming APRT deficiency diagnosis.
Negative: No pathogenic variants found, but clinical correlation is necessary if symptoms persist.
Variant of uncertain significance (VUS): Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

Consult a geneticist, nephrologist, or metabolic specialist if you have a family history of APRT deficiency, recurrent kidney stones, unexplained renal symptoms, or a positive test result.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require genetic counseling for interpretation
  • ⚠False positives or negatives possible

Risks & Considerations

  • ●Minor bruising at the blood draw site
  • ●Rare risk of infection
  • ●Fainting or dizziness during blood collection

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Technical errors in sequencing

Frequently Asked Questions

What is APRT deficiency?
APRT deficiency is a rare genetic disorder where the body lacks the enzyme adenine phosphoribosyltransferase, leading to improper purine metabolism and accumulation of adenine, which can cause kidney stones and chronic kidney disease.
What are the symptoms of APRT deficiency?
Symptoms include recurrent kidney stones, blood in urine (hematuria), painful urination, chronic kidney disease, and in severe cases, renal failure.
How is APRT deficiency diagnosed?
Diagnosis involves clinical evaluation, blood and urine tests, imaging studies like ultrasound, and confirmatory genetic testing such as the APRT Gene NGS Genetic Test.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing technology to analyze the APRT gene for mutations, requiring a blood or DNA sample collected from the patient.
Is the APRT Gene NGS Genetic Test accurate?
Yes, the test is highly accurate due to advanced NGS technology, but results should be interpreted by a genetic counselor or healthcare professional.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the APRT Gene NGS Genetic Test?
The cost is INR 20,000, which includes test fees, consultation, and follow-up appointments. Home sample collection is available at no extra charge in many cities across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities, including Mumbai, Delhi, Bangalore, and others listed on our website.
What should I do before the test?
No special preparation is needed, but provide a complete clinical history and family pedigree during the pre-test genetic counseling session.
How is the sample collected for the test?
A blood sample is drawn from a vein in the arm, or alternatively, extracted DNA or a blood drop on an FTA card can be used.
What do the results of the test mean?
A positive result indicates a mutation in the APRT gene, confirming APRT deficiency; a negative result means no pathogenic variants were detected, but clinical correlation is advised; variants of uncertain significance may require further testing.
Who should consider getting the APRT Gene NGS Genetic Test?
Individuals with a family history of APRT deficiency, recurrent kidney stones, unexplained renal symptoms, or those undergoing genetic counseling for metabolic disorders should consider this test.
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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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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