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PITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test

Short Name: PITPNM3 CRD5 NGS Test

Also known as: CRD5 Genetic Test, PITPNM3 Gene Sequencing Test, PITPNM3-associated Cone-Rod Dystrophy Test

PITPNM3 Gene Cone-Rod Dystrophy Type 5 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 Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Single-Gene Genetic TestChildren, Adolescents and Adults🏠 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

To detect pathogenic or likely pathogenic variants in the PITPNM3 gene associated with cone-rod dystrophy type 5, thereby supporting clinical diagnosis, prognostication and genetic counselling.

Test Code
3818
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please inform the laboratory about any previous genetic testing or bone marrow transplant history if relevant. Written informed consent must be provided before sample collection.

Method: Peripheral venous blood collection or dried blood spot on FTA card

Step 2

Laboratory Analysis

A small blood sample will be collected from a vein in the arm, or a few drops of blood will be spotted onto an FTA card. The procedure takes only a few minutes.

Step 3

Report Delivery

You can resume normal activities immediately. The laboratory will process the sample and share the report in 3 to 4 weeks. Raw data, FASTQ and VCF files are available on request.

Timeline: Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Discuss your symptoms and family history with your doctor. No special preparation such as fasting is needed. Provide informed consent before the blood sample is collected.
2
During the Test:A blood sample is collected from a vein in the arm, or a blood spot is collected on an FTA card. The procedure is quick and carries minimal discomfort.
3
After the Test:There are no restrictions after testing. You may go about your normal daily routine. The report is usually available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic or likely pathogenic variants in the PITPNM3 gene associated with cone-rod dystrophy type 5, thereby supporting clinical diagnosis, prognostication and genetic counselling.

How to Prepare

  • No fasting required before collection.
  • Blood sample should be collected in an EDTA vacutainer and gently inverted.
  • FTA card should be air-dried and stored in the provided protective pouch.
  • The sample must be labelled with the patient's full name, date of birth and collection date.
  • Carry the test requisition form and signed consent form to the collection centre.

Doctor's Notes

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

"Inherited retinal disorders such as cone-rod dystrophy type 5 can have overlapping symptoms with other eye diseases. Genetic confirmation is important for counselling, prognostication and reproductive risk assessment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required by the testing protocol; typically 2-3 ml blood or one FTA spot
ContainerEDTA vacutainer / sterile DNA vial / FTA card
Collection MethodPeripheral venous blood collection or dried blood spot on FTA card

Sample Stability

Whole blood in EDTA: stable for 72 hours at 2-8°C
Extracted DNA: stable at -20°C or below for long-term storage
FTA card: stable at room temperature in a dry protective pouch
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient quantity of blood or DNA
  • Mislabelled or unlabeled sample
  • Sample stored or transported at incorrect temperature

Understanding Your Results

This genetic test should be interpreted by a clinical geneticist in the context of the patient's visual symptoms, ocular examination findings, family history and other relevant clinical data.
Positive: A pathogenic or likely pathogenic PITPNM3 variant was detected, supporting a molecular diagnosis of cone-rod dystrophy type 5.
Negative: No pathogenic PITPNM3 variant was detected. This does not rule out a clinical diagnosis of CRD5; other genes or non-covered regions may be involved.
Variant of uncertain significance: A DNA change was identified whose effect on protein function is unclear. Additional family segregation studies may be needed.
⚠️ When to Consult a Doctor:

If you or your child have unexplained progressive visual loss, colour vision defects, photophobia or night blindness, consult an ophthalmologist or clinical geneticist to discuss the need for genetic testing.

Limitations

  • ⚠Standard NGS may not reliably detect large structural rearrangements or deep intronic variants.
  • ⚠Mutations in regulatory regions not covered by the targeted analysis may be missed.
  • ⚠A negative result does not exclude the clinical diagnosis of cone-rod dystrophy.
  • ⚠A variant of uncertain significance may require additional family studies.

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Slight dizziness during or after blood draw

Interfering Factors

  • ●Insufficient or highly degraded DNA
  • ●Sample mix-up or mislabelling
  • ●PCR contamination during sample handling

Compare With Similar Tests

TestPITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test
ComparisonPITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test

Frequently Asked Questions

What is the PITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test?
It is a next-generation sequencing test that reads the PITPNM3 gene to detect disease-causing mutations associated with cone-rod dystrophy type 5. It helps confirm a genetic diagnosis in people with symptoms of CRD5 and in at-risk family members.
Who should take this test?
Individuals with progressive vision loss, photophobia, colour vision deficits or night blindness, and those with a family history of cone-rod dystrophy type 5 may be candidates. The test is best ordered after consultation with an ophthalmologist or clinical geneticist.
How much does the test cost?
The test cost is Rs 20000.0 (INR 20000). DNA Labs India offers free home sample collection for online bookings at this price.
What sample is required for this test?
Blood or extracted DNA or one drop of blood on an FTA card can be used. The sample can be collected at home or at a DNA Labs India collection centre.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before and after sample collection.
When will I get the report?
Reports are issued in 3 to 4 weeks. After the test, raw data, FASTQ and VCF files are accessible on request along with the clinical report.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic PITPNM3 variant was detected. This supports a molecular diagnosis of cone-rod dystrophy type 5 and allows recurrence-risk counselling.
What does a negative result mean?
A negative result means no pathogenic PITPNM3 variant was identified in the test. It does not completely rule out CRD5 because the cause may be in another gene or in a region not covered by this test.
Does DNA Labs India provide raw data and VCF files?
Yes. DNA Labs India is transparent and provides raw data, FASTQ and VCF files along with the conclusive clinical report for this NGS genetic test.
Is genetic counselling provided with the test?
Yes, a pre-test genetic counselling session is recommended to draw a family pedigree, discuss inheritance risk and explain possible outcomes. Post-test counselling is also available.
Can this test be used to test other family members?
Once a pathogenic variant is identified, targeted family member testing can be performed to determine their carrier or affected status. This should be arranged through a clinical geneticist.
Does insurance cover this test?
Coverage depends on your insurance policy. Some public and private schemes may provide partial or full coverage if medically indicated; you should check with the insurer before testing.
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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