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UNC45B Gene Cataract Type 43 NGS Genetic Test

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UNC45B Gene Cataract Type 43 NGS Genetic Test

Short Name: UNC45B Cataract NGS

Also known as: UNC45B-related hereditary cataract, Cataract type 43, UNC45B gene mutation analysis

UNC45B Gene Cataract Type 43 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 Your UNC45B gene NGS test report will be delivered within 3 to 4 weeks of sample receipt. You will receive an email and WhatsApp notification when the report is ready for download on the patient portal.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 NGS genetic test is to detect pathogenic mutations in the UNC45B gene associated with cataract type 43. The results help confirm a clinical diagnosis, define the genetic basis of the condition, assess the inheritance pattern, and provide crucial information for genetic counselling and family risk assessment.

Test Code
3784
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Your UNC45B gene NGS test report will be delivered within 3 to 4 weeks of sample receipt. You will receive an email and WhatsApp notification when the report is ready for download on the patient portal.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. We recommend a genetic counseling session to draw a detailed pedigree chart of family members affected with UNC45B gene cataract type 43. Please inform the laboratory about any prior genetic testing, blood transfusion, or bone marrow transplant before sample collection.

Method: Peripheral blood draw or dried blood spot on FTA card

Step 2

Laboratory Analysis

A small blood sample is drawn from a vein, or a few drops of blood are collected on an FTA card. The procedure is quick, and only minimal discomfort can be expected.

Step 3

Report Delivery

No post-sample collection restrictions are required. You may resume your normal activities immediately. The sample will be securely transported to the laboratory for NGS analysis.

Timeline: Your UNC45B gene NGS test report will be delivered within 3 to 4 weeks of sample receipt. You will receive an email and WhatsApp notification when the report is ready for download on the patient portal.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counseling session may be scheduled to collect family history and draw a pedigree chart. A written informed consent will be taken before sample collection.
2
During the Test:The sample collection for a blood-based NGS test takes only a few minutes. You may feel a slight prick during the venipuncture. If using FTA card, the finger or heel is pricked with a lancet.
3
After the Test:You can leave immediately after sample collection. The laboratory will process your sample and the report will be delivered within 3 to 4 weeks. Genetic counseling is recommended after the result is available.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic mutations in the UNC45B gene associated with cataract type 43. The results help confirm a clinical diagnosis, define the genetic basis of the condition, assess the inheritance pattern, and provide crucial information for genetic counselling and family risk assessment.

How to Prepare

  • Please carry a valid government photo ID for verification
  • FTA card samples should be air-dried before packing in the provided envelope
  • Inform the lab if you have received a blood transfusion in the last two weeks
  • Patients younger than one year can provide a heel-prick FTA card sample

Doctor's Notes

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

"Early genetic diagnosis of hereditary cataract enables appropriate counselling, family screening, and timely visual rehabilitation. This NGS test provides a definitive molecular basis for UNC45B-related cataract type 43."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per lab protocol (2-3 ml blood or 1 FTA card spot)
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw or dried blood spot on FTA card

Sample Stability

Whole blood (EDTA): transport to laboratory within 24-48 hours
Extracted DNA: stable at -20°C for long-term storage
FTA card: stable at ambient temperature for several months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled or unlabeled sample
  • Sample received in a non-EDTA tube
  • Insufficient DNA concentration or degraded DNA

Understanding Your Results

This test is performed to identify mutations in the UNC45B gene that cause cataract type 43. Results should always be interpreted in the context of the patient's clinical presentation, family history, and with the guidance of a qualified healthcare professional.
Positive (pathogenic variant detected): Confirms the genetic diagnosis of UNC45B gene cataract type 43 and supports autosomal dominant inheritance.
Variant of uncertain significance (VUS): A genetic change was found, but it is not yet known to be benign or pathogenic. Additional family studies and segregation analysis may help refine the classification.
Negative (no pathogenic variant detected): No mutation was identified in the UNC45B gene. This reduces the likelihood of UNC45B-related cataract, but other genetic or environmental causes of cataract may still be possible.
⚠️ When to Consult a Doctor:

If you or your child has been diagnosed with early-onset cataracts, has unexplained vision impairment, or has a family history of hereditary cataract, consult an ophthalmologist and a genetic counselor. Genetic testing can clarify the risk for other family members and guide management decisions.

Limitations

  • ⚠This test only targets variants in the UNC45B gene and may not identify mutations in other cataract-associated genes
  • ⚠Large genomic rearrangements (deletions/duplications) may not be reliably detected by standard NGS
  • ⚠Variant interpretation may change over time as new scientific evidence emerges
  • ⚠A negative result does not exclude other genetic or non-genetic causes of cataract

Risks & Considerations

  • ●There are no significant physical risks associated with blood sample collection.
  • ●Minimal risks include minor discomfort, bruising, or, in rare cases, infection at the puncture site.
  • ●Emotional and psychological implications of genetic test results may be significant; counseling is advised.

Interfering Factors

  • ●DNA degradation due to prolonged storage or high temperature
  • ●Maternal cell contamination in prenatal samples
  • ●Blood transfusion within two weeks prior to sample collection
  • ●Insufficient DNA quantity or quality for NGS

Compare With Similar Tests

TestUNC45B Gene Cataract Type 43 NGS Genetic Test
ComparisonUNC45B Gene Cataract Type 43 NGS Genetic Test

Frequently Asked Questions

What is UNC45B gene cataract type 43?
UNC45B gene cataract type 43 is a rare genetic condition characterized by congenital or early-onset cataracts caused by pathogenic mutations in the UNC45B gene. It follows an autosomal dominant inheritance pattern.
What are the common symptoms of this condition?
The main symptom is cataract formation in the eyes, leading to blurry or cloudy vision, sensitivity to light, double vision, and difficulty seeing at night.
How is the UNC45B gene cataract type 43 NGS genetic test performed?
The test is performed using a blood sample, extracted DNA, or one drop of blood on an FTA card. Next-generation sequencing technology is used to analyze the UNC45B gene for disease-causing mutations.
Is fasting required for this test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What is the cost of this test at DNA Labs India?
The cost of the UNC45B Gene Cataract Type 43 NGS Genetic Test at DNA Labs India is INR 20,000. This price includes free home sample collection across many cities in India.
How long does it take to get the test report?
Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
What does a positive test result indicate?
A positive result means a pathogenic mutation in the UNC45B gene has been detected, confirming the genetic diagnosis of cataract type 43.
What does a negative test result mean?
A negative result means no mutation was found in the UNC45B gene. However, other genetic or environmental causes of cataract may still be possible and additional testing may be considered.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is strongly recommended before and after testing to help patients and families understand the medical, psychological, and familial implications of the results.
Can this test be done on a saliva sample?
At DNA Labs India, the accepted sample types for this test are blood, extracted DNA, or one drop of blood on an FTA card. Saliva samples are not routinely accepted for this specific assay.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India is transparent and provides the raw data files, including FASTQ and VCF, along with the conclusive clinical report for the UNC45B Gene Cataract Type 43 NGS Genetic Test.
In which cities is home sample collection available?
Home sample collection is available across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur, Ahmedabad, and many more. Please contact us to confirm 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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