OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test
Short Name: OCRL NGS Genetic Test
Also known as: OCRL Gene Mutation Test, Lowe Syndrome Genetic Test, OCRL NGS Panel
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 The report will be available within 3 to 4 weeks from the date the sample reaches the laboratory. For urgent cases, a preliminary report may be provided upon special request.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of the OCRL gene NGS genetic test is to identify mutations in the OCRL gene that cause Lowe oculocerebrorenal syndrome. This test is used to confirm a clinical diagnosis, assess carrier status in at-risk family members, facilitate early intervention, and provide information for genetic counseling and family planning. It also helps differentiate Lowe syndrome from other disorders with overlapping symptoms such as Dent disease and other causes of congenital cataracts.
- Test Code
- 4213
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The report will be available within 3 to 4 weeks from the date the sample reaches the laboratory. For urgent cases, a preliminary report may be provided upon special request.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. A prior genetic counselling session is recommended to draw a family pedigree and understand the implications of the test. Please carry any previous medical records, eye examination reports, and kidney function test results.
Method: Venipuncture or Finger-prick blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect a small sample of blood from your arm using a sterile needle, or a few drops of blood from a finger prick will be placed on an FTA card. The procedure is quick and causes minimal discomfort.
Report Delivery
After blood collection, you may leave the laboratory or resume normal activities immediately. If the sample is collected at home, it will be transported to the lab under appropriate conditions. The test results are typically ready in 3 to 4 weeks. You will be notified when the report and raw data files are available for download.
Timeline: The report will be available within 3 to 4 weeks from the date the sample reaches the laboratory. For urgent cases, a preliminary report may be provided upon special request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the OCRL gene NGS genetic test is to identify mutations in the OCRL gene that cause Lowe oculocerebrorenal syndrome. This test is used to confirm a clinical diagnosis, assess carrier status in at-risk family members, facilitate early intervention, and provide information for genetic counseling and family planning. It also helps differentiate Lowe syndrome from other disorders with overlapping symptoms such as Dent disease and other causes of congenital cataracts.
How to Prepare
- Maintain normal hydration and no fasting is required.
- For blood collection, an EDTA vacuum tube is preferred.
- Alternatively, a few drops of blood can be collected on a Whatman FTA card and allowed to air dry for 30 minutes.
- Label the sample tube/card with your full name, date of birth, and date of collection.
- Store blood sample at 2-8°C if shipping is not immediate.
- Please provide the test requisition form and any relevant clinical history documents.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early diagnosis of Lowe syndrome through genetic testing allows timely management of cataracts, renal dysfunction, and neurodevelopmental delays, significantly improving long-term outcomes."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient quantity of blood DNA
- Improperly labeled or unlabeled sample container
- Sample received after prolonged storage or at incorrect temperature
- FTA card with wet or contaminated blood spots
Understanding Your Results
Pathogenic or Likely Pathogenic variant identified
Confirms the clinical diagnosis of Lowe oculocerebrorenal syndrome. Appropriate management and surveillance should be initiated.
Action: Genetic counselling is provided to understand inheritance and risk for other family members.
Negative (no pathogenic variant detected)
No clinically significant mutation found in the OCRL gene. This does not exclude the possibility of Lowe syndrome if clinical findings are strong.
Action: Discuss alternate genetic causes such as other genes - CLCN5 - or other syndromes.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its effect is unknown. It may or may not cause disease.
Action: Family segregation studies are recommended to assess pathogenicity.
If you or your child has any combination of cataracts, kidney dysfunction, developmental delay, intellectual disability, low muscle tone, or seizures, consult a pediatrician, neurologist, or medical geneticist. A doctor may recommend OCRL genetic testing if Lowe syndrome is suspected. Additionally, families with a known history of Lowe syndrome should consult a genetic counselor before planning a pregnancy.
Limitations
- ⚠NGS may not detect all types of mutations, such as large chromosomal rearrangements, deep intronic variants, or repeat expansions in the OCRL gene.
- ⚠A negative result does not completely rule out Lowe syndrome if clinical suspicion is high; additional testing such as MLPA or whole exome sequencing may be required.
- ⚠Variants of uncertain clinical significance (VUS) may be reported and further family studies may be needed.
- ⚠The test does not provide information about the severity or progression of the disease.
Risks & Considerations
- ●Bruising or slight bleeding at the blood collection site
- ●Rare risk of infection at the needle site
- ●Psychological impact of receiving a genetic diagnosis
- ●Variant of uncertain significance causing anxiety
Interfering Factors
- ●Blood sample contamination or improper storage causing DNA degradation
- ●Maternal cell contamination in prenatal samples
- ●Low DNA quantity or quality leading to incomplete sequencing
- ●Presence of large deletions or duplications that may be missed by NGS
- ●Technician or laboratory errors during sample processing
Compare With Similar Tests
| Test | OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test | OCRL Gene Single Variant Analysis | Whole Exome Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test |
Frequently Asked Questions
What is the OCRL Gene Lowe oculocerebrorenal syndrome NGS genetic test?
What is the cost of the OCRL gene NGS genetic test in India?
What are the symptoms of Lowe oculocerebrorenal syndrome?
How is the OCRL gene NGS test performed?
What sample type is needed for this test?
How long does it take to get reports?
Is fasting required before the OCRL gene test?
What does a positive result mean?
Can a negative result completely rule out Lowe syndrome?
Does DNA Labs India provide raw data files?
My child has cataracts and developmental delay – should we get this test?
Are there any risks or side effects of this genetic test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
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.