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OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test

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OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test

Short Name: OCRL Gene NGS Test

Also known as: Lowe syndrome, OCRL syndrome, Oculocerebrorenal syndrome

OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-generation sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic TestMale🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the OCRL gene for accurate diagnosis of Lowe oculocerebrorenal syndrome, aiding in clinical management and genetic counseling.

Test Code
2617
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-generation sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:A genetic counseling session is conducted to discuss test implications, draw a family pedigree, and obtain informed consent.
2
During the Test:A simple blood draw is performed; the procedure is non-invasive and quick.
3
After the Test:Results are delivered online, and follow-up counseling is available for interpretation and next steps.

About This Test

Who Should Get This Test

To identify mutations in the OCRL gene for accurate diagnosis of Lowe oculocerebrorenal syndrome, aiding in clinical management and genetic counseling.

How to Prepare

  • No specific fasting required unless advised
  • Bring valid ID and doctor's prescription
  • Inform about any medications or health conditions

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis of Lowe syndrome is essential for management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: Store at 2-8°C for up to 48 hours
Extracted DNA: Store at -20°C for long-term stability
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Test results indicate the presence or absence of pathogenic mutations in the OCRL gene, which is diagnostic for Lowe syndrome.
📊

Positive

Pathogenic mutation detected, confirming diagnosis of Lowe syndrome.

📊

Negative

No pathogenic variants found; clinical correlation and further testing may be needed.

📊

Variant of uncertain significance

Genetic variant identified but significance unclear; recommend follow-up testing and counseling.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms persist, for family planning advice, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for accurate interpretation of results

Risks & Considerations

  • ●Psychological impact of genetic results
  • ●Potential privacy concerns with genetic data

Frequently Asked Questions

What is Lowe oculocerebrorenal syndrome?
Lowe syndrome is a rare genetic disorder affecting males, caused by mutations in the OCRL gene, leading to issues with eyes, kidneys, and brain.
What causes Lowe syndrome?
It is caused by mutations in the OCRL gene, which provides instructions for an enzyme involved in cellular membrane regulation.
What are the common symptoms of Lowe syndrome?
Symptoms include intellectual disability, cataracts, renal tubular dysfunction, seizures, short stature, and developmental delays.
How is Lowe syndrome diagnosed?
Diagnosis is typically through genetic testing, such as NGS, to identify mutations in the OCRL gene.
What is the OCRL Gene NGS Genetic Test?
It is a Next-generation sequencing test that analyzes the OCRL gene for mutations to confirm Lowe syndrome diagnosis.
What is the cost of the OCRL Gene NGS Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
How is the sample collected for this test?
A blood sample is collected via venipuncture, or extracted DNA or a blood drop on FTA card can be used.
How long does it take to get the results?
Results are typically delivered within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across numerous cities in India.
What should I do before getting tested?
Provide clinical history, undergo genetic counseling, and ensure proper sample collection as per instructions.
What do the test results mean?
Results indicate presence or absence of OCRL gene mutations; positive confirms Lowe syndrome, negative may require further evaluation.
Where can I get this test done?
The test is available at DNA Labs India with home collection in cities like Mumbai, Delhi, Bangalore, and many more across India.
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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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.

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