Skip to main content
DNA Labs India

OCRL Gene Dent disease type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

OCRL Gene Dent disease type 2 NGS Genetic Test

Short Name: OCRL Dent Disease Type 2 NGS Test

Also known as: OCRL Gene Sequencing, Dent Disease Type 2 Genetic Test, OCRL Mutation Analysis, Dent-2 NGS Panel

OCRL Gene Dent disease type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation for detected variants if indicated, Exon-level copy number variant analysis from NGS data on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks of sample receipt. An SMS and email alert is sent when the report is available.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify disease-causing mutations in the OCRL gene in an individual with clinical signs of Dent disease type 2, or to offer carrier and predictive testing in at-risk family members after clinical and genetic counselling.

Test Code
4005
ICD Code
N25.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks of sample receipt. An SMS and email alert is sent when the report is available.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger confirmation for detected variants if indicated, Exon-level copy number variant analysis from NGS data
Step 1

Sample Collection

No special preparation such as fasting is needed. A clinical history and genetic counselling referral are recommended before testing. If the patient has had a recent blood transfusion or bone marrow transplant, this must be communicated to the laboratory.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Only a small blood sample is collected by a trained phlebotomist from a vein in the arm. If an FTA card is used, one drop of blood from a finger or heel may be spotted.

Step 3

Report Delivery

No restrictions after sample collection. The patient may resume normal diet and activities immediately.

Timeline: Reports are issued within 3 to 4 weeks of sample receipt. An SMS and email alert is sent when the report is available.

Patient Instructions

1
Before the Test:No fasting is required. Provide a detailed clinical history, renal parameters and family history. Genetic counselling is recommended before the test.
2
During the Test:The test involves a simple blood collection or FTA card blood spot. There is no pain beyond routine phlebotomy.
3
After the Test:You can resume normal activities immediately. The report will be shared through the requested delivery mode within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing mutations in the OCRL gene in an individual with clinical signs of Dent disease type 2, or to offer carrier and predictive testing in at-risk family members after clinical and genetic counselling.

How to Prepare

  • EDTA whole blood sample should be collected under aseptic precautions
  • Do not freeze whole blood
  • FTA card blood spots should be allowed to air dry completely
  • Samples must be labeled with patient name, date, time and unique identifier
  • Clinical history and referral form must accompany the sample

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"In an individual with clinical features of Dent disease, early genetic confirmation helps prevent progression to end-stage kidney disease and supports family risk counselling. The OCRL gene test should be combined with renal ultrasound and urine chemistry for comprehensive evaluation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL venous blood; 5-10 microlitres of extracted DNA; 1 FTA card spot
ContainerEDTA Vacutainer / DNA sample vial / FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: stable for 7 days at 2-8 degree Celsius
Extracted DNA: stable for 6 months at -20 degree Celsius
FTA card blood spots: stable for 6 months at ambient temperature
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Sample without correct identification
  • Sample received after more than 7 days at room temperature
  • Mismatch between referral form and sample label
  • Inappropriate transport conditions

Understanding Your Results

Variants are classified using ACMG/AMP guidelines. A finding of a pathogenic or likely pathogenic variant in the OCRL gene usually confirms the diagnosis when the clinical presentation is consistent. A negative result does not exclude all genetic causes of Dent-like kidney disease; CLCN5 and other genes should be considered.
Pathogenic or likely pathogenic variant: Consistent with a diagnosis of Dent disease type 2 when the clinical phenotype matches.
Variants of uncertain significance: Additional family studies or further functional analyses may be required.
Benign or likely benign variants: Considered not causative.
No variant detected: No OCRL-related cause identified; other genetic causes should be considered.
⚠️ When to Consult a Doctor:

If you or your child have proteinuria, blood in urine, recurrent kidney stones, nephrocalcinosis or unexplained chronic kidney disease, please consult a nephrologist and a clinical geneticist. Genetic counselling is recommended before and after testing.

Limitations

  • ⚠This test does not evaluate the CLCN5 gene responsible for Dent disease type 1
  • ⚠NGS may not reliably detect large structural rearrangements, deep intronic variants or repeat expansions
  • ⚠Variants of uncertain significance may require additional family studies
  • ⚠Negative test result does not exclude all genetic causes of Dent-like kidney disease
  • ⚠Mosaicism below the analytical sensitivity of NGS may not be detected

Risks & Considerations

  • ●Bruising at the venipuncture site
  • ●Slight pain or discomfort during blood collection
  • ●Infection is very rare when sterile equipment is used

Interfering Factors

  • ●Recent allogeneic bone marrow transplant can affect blood cell DNA analysis
  • ●Maternal cell contamination in umbilical cord blood samples
  • ●Suboptimal DNA quantity or quality
  • ●Samples with visible hemolysis or clotting
  • ●Incomplete clinical information may affect interpretation

Compare With Similar Tests

TestOCRL Gene Dent disease type 2 NGS Genetic Test
ComparisonOCRL Gene Dent disease type 2 NGS Genetic Test

Frequently Asked Questions

What is the OCRL Gene Dent Disease Type 2 NGS Genetic Test?
It is a targeted Next Generation Sequencing test that reads the OCRL gene to detect disease-causing mutations associated with Dent disease type 2.
What is the cost of this test at DNA Labs India?
The test costs Rs. 20,000, which includes sample collection, DNA extraction, sequencing, clinical report, raw data files and free home sample collection wherever available.
Which sample is needed for the OCRL gene test?
The acceptable sample types are blood, extracted DNA, or one drop of blood on an FTA card. EDTA blood is preferred.
Do I need to fast before the test?
No. Fasting is not required for this genetic test.
How is this test performed?
NGS technology is used to sequence the coding exons and splice regions of the OCRL gene. Detected variants may be confirmed using Sanger sequencing.
What mutations can this test detect?
The test can detect single nucleotide variants, insertions, deletions and copy number variations in the OCRL gene.
How long will my report take?
The reports are usually available within 3 to 4 weeks after sample collection.
In which cities is home sample collection available?
DNA Labs India offers home sample collection in more than 190 Indian cities, including Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Pune and Jaipur, among others.
Can this test detect Dent disease type 1?
No. Dent disease type 1 is caused by mutations in the CLCN5 gene. This test only analyses OCRL for Dent disease type 2.
Will I receive raw data with the report?
Yes. DNA Labs India provides FASTQ, VCF and raw data files along with the conclusive clinical report.
Is genetic counselling included?
Pre-test genetic counselling is recommended to draw a pedigree chart and obtain informed consent. Post-test interpretation and counselling support is also available.
What do the results mean?
A pathogenic or likely pathogenic variant is usually diagnostic when clinical features match. A variant of uncertain significance needs further evaluation, and a benign result means the variant is not considered disease-causing.
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.

Related Tests

Amyloid Protein Identification Test

₹300,000

CLCNKB Gene Bartter syndrome type 3 NGS Genetic Test

₹20,000

SLC12A7 Gene Bartter syndrome NGS Genetic Test

₹20,000

SLC12A5 Gene Bartter syndrome NGS Genetic Test

₹20,000

SLC12A2 Gene Bartter syndrome NGS Genetic Test

₹20,000

KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.