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UNC119 Gene Cone-Rod Dystrophy NGS Genetic Test

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UNC119 Gene Cone-Rod Dystrophy NGS Genetic Test

Short Name: UNC119 Cone-Rod Dystrophy NGS Test

Also known as: UNC119 gene sequencing, UNC119-related cone-rod dystrophy genetic test, Cone-rod dystrophy targeted NGS test

UNC119 Gene Cone-Rod Dystrophy 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 typically delivered in 3 to 4 weeks from the date the sample reaches the laboratory. In some cases, Sanger confirmation of a detected variant may add a few extra days.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren 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

The purpose of this test is to identify disease-causing variants in the UNC119 gene and confirm a molecular diagnosis of UNC119-associated cone-rod dystrophy. It also helps in genetic counselling, risk assessment for family members, and reproductive planning.

Test Code
3809
ICD Code
H35.50
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered in 3 to 4 weeks from the date the sample reaches the laboratory. In some cases, Sanger confirmation of a detected variant may add a few extra days.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to draw a three-generation pedigree chart, especially when other family members are affected. Please carry previous ophthalmic records, electroretinography reports, visual acuity tests and any prior genetic test reports.

Method: Peripheral blood draw, DNA submission, or FTA card blood spot

Step 2

Laboratory Analysis

A small sample is collected by venous blood draw into an EDTA vacutainer. If an FTA card is used, one drop of blood is placed on the card and allowed to dry. If purified DNA is provided, it is checked for quantity and quality before sequencing.

Step 3

Report Delivery

There are no restrictions after sample collection. You can resume normal diet and daily activities. The sample is transported to the laboratory at the required temperature. The clinical report is shared within 3 to 4 weeks.

Timeline: Reports are typically delivered in 3 to 4 weeks from the date the sample reaches the laboratory. In some cases, Sanger confirmation of a detected variant may add a few extra days.

Patient Instructions

1
Before the Test:Please complete a detailed clinical history form and genetic counselling session before sample collection. No fasting is required. Carry all previous eye examination reports and any prior genetic test results.
2
During the Test:A phlebotomist or clinical genetics team member will collect the sample. The process is quick and minimally invasive. If you are submitting extracted DNA or an FTA card, the sample will be checked for adequacy.
3
After the Test:You may resume normal activities immediately. The laboratory will process the sample and provide an update on its status. The final report will be delivered through your chosen communication channel.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the UNC119 gene and confirm a molecular diagnosis of UNC119-associated cone-rod dystrophy. It also helps in genetic counselling, risk assessment for family members, and reproductive planning.

How to Prepare

  • No need to fast before sample collection
  • Inform the laboratory about current medications and any previous genetic testing
  • Carry previous ophthalmic reports and the referral letter from your doctor
  • If using an FTA card, ensure the blood spot is completely dry before packing the card

Doctor's Notes

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

"A positive result can help guide screening of at-risk relatives and support reproductive planning. Since cone-rod dystrophy may follow different inheritance patterns, we recommend pedigree analysis and genetic counselling before ordering this test. This ensures the right test is selected and the result is interpreted correctly in the context of the patient's clinical presentation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerEDTA vacutainer / Extracted DNA / FTA blood spot card
Collection MethodPeripheral blood draw, DNA submission, or FTA card blood spot

Sample Stability

EDTA whole blood
Extracted DNA
FTA card blood spot
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample collected in a heparin tube
  • Insufficient quantity of blood or DNA
  • Mislabeled sample or sample without consent and clinical history
  • FTA card with wet blood, contamination or poor blood spot

Understanding Your Results

The result of this NGS genetic test should be interpreted by a clinical geneticist in the context of the patient's ocular phenotype, family history and previous investigations. Variant classification is based on ACMG/AMP guidelines.
📊

Negative result. Does not rule out UNC119-related disease if a deep intronic or structural variant is suspected. Consider a broader inherited retinal dystrophy panel.

📊

Inconclusive result. Additional family testing or RNA analysis may help determine clinical significance.

📊

Positive result. Consistent with a molecular diagnosis of UNC119-associated cone-rod dystrophy. Genetic counselling and family screening are recommended.

⚠️ When to Consult a Doctor:

If you or your child have progressive difficulty with color vision, reduced central vision, night blindness or loss of peripheral vision, please consult an ophthalmologist. If a UNC119 variant is detected or suspected, a clinical geneticist can help plan counselling, family testing and management.

Limitations

  • ⚠This test is targeted to the UNC119 gene only and does not evaluate all genes associated with cone-rod dystrophy.
  • ⚠NGS may not reliably detect large structural variants, repeat expansions, deep intronic mutations or mitochondrial variants unless separately validated.
  • ⚠A negative result does not exclude a genetic cause; other genes may be responsible for the phenotype.
  • ⚠Variants of uncertain significance may require family segregation studies or complementary RNA analysis.
  • ⚠The test is not intended for prenatal or preimplantation diagnosis without prior validation and genetic counselling.

Risks & Considerations

  • ●Minimal pain, bruising or bleeding at the blood draw site
  • ●Rare risk of infection at the venipuncture site
  • ●Possible psychological impact of a positive genetic result
  • ●Privacy concerns regarding genetic information, mitigated by secure data handling

Interfering Factors

  • ●Very low or degraded DNA concentration
  • ●PCR contamination during sample processing
  • ●Sample collected in heparin tube instead of EDTA
  • ●Variant located in a region not covered by the targeted NGS assay
  • ●Incomplete clinical or family history affecting interpretation

Compare With Similar Tests

TestUNC119 Gene Cone-Rod Dystrophy NGS Genetic Test
ComparisonUNC119 Gene Cone-Rod Dystrophy NGS Genetic Test

Frequently Asked Questions

What is the UNC119 gene cone-rod dystrophy NGS genetic test?
It is a targeted next-generation sequencing test that looks for disease-causing variants in the UNC119 gene. UNC119 is involved in the generation and survival of photoreceptor cells in the retina. Mutations in this gene can cause a progressive form of cone-rod dystrophy leading to loss of color vision, central vision, night vision and peripheral vision.
Does this test confirm a diagnosis of cone-rod dystrophy?
The test can confirm a molecular diagnosis if a pathogenic or likely pathogenic UNC119 variant is detected. However, the final diagnosis should be made by an ophthalmologist or clinical geneticist after correlating genetic findings with eye examination, visual fields and electroretinography.
Do I need to fast before the test?
No. Fasting is not required for this NGS genetic test. You can eat and drink normally before sample collection.
What kind of samples are accepted?
We accept blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. The preferred sample is reported at the time of booking. For home collection, a phlebotomist will collect blood.
Will I receive the raw data files with my report?
DNA Labs India provides raw sequencing files such as FASTQ and VCF along with the clinical report for transparency. You can request these files for a second opinion or future analysis.
What does a negative result mean?
A negative result means no pathogenic UNC119 variant was found in the regions analyzed. It does not completely rule out UNC119-related disease if the variant is deep intronic or if the condition is caused by another gene. In that case, a larger retinal dystrophy panel may be recommended.
What is the cost of the UNC119 gene cone-rod dystrophy NGS test?
The price of the test is INR 20,000 at DNA Labs India. The price includes gene sequencing, bioinformatics analysis, clinical interpretation and the final report.
How long will it take to get results?
Reports are usually delivered in 3 to 4 weeks after the sample reaches the laboratory. If a sequence variant requires Sanger confirmation, there may be a slight delay.
Who should get this genetic test?
It is recommended for individuals with clinical features of cone-rod dystrophy, a family history of inherited retinal disease, or those undergoing reproductive planning after a confirmed UNC119 variant in the family.
Can I get this test if I am pregnant?
The test is a non-invasive blood test and is generally safe during pregnancy. However, it is important to discuss the implications and timing with your obstetrician and clinical geneticist before proceeding.
Is genetic counselling included before testing?
A genetic counselling session to draw a family pedigree and discuss the benefits, risks and limitations of the test is recommended before the sample is collected. This is an essential part of the testing process at DNA Labs India.
Does DNA Labs India provide home sample collection?
Yes. Free home sample collection is available for online bookings in more than 200 cities across India. The booking page will confirm the availability in your city.
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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