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UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test

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UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test

Short Name: UBE3B BPIDS NGS Test

Also known as: UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test, UBE3B Gene Mutation Analysis, BPIDS NGS Genetic Test, UBE3B Next-Generation Sequencing Test

UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability 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 from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 primary purpose is to identify pathogenic variants in the UBE3B gene to confirm or exclude Blepharophimosis-Ptosis-Intellectual Disability Syndrome in a symptomatic individual and to inform clinical management and family counselling.

Test Code
3776
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient or family should provide detailed clinical history, including age of onset and specific features. A genetic counselling session is recommended to draw a pedigree chart and document family history.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample is collected by venipuncture into an EDTA tube, or a finger-prick blood sample may be spotted on an FTA card. The procedure is quick and generally causes minimal discomfort.

Step 3

Report Delivery

You can resume normal diet and activities. The sample will be transported to the laboratory. Reports are usually ready in 3 to 4 weeks and will be shared through the chosen delivery mode.

Timeline: 3 to 4 weeks from the date of sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. A doctor's order and genetic counselling are advised before the test.
2
During the Test:A blood sample or FTA card blood spot is collected. The collection is usually completed within a few minutes.
3
After the Test:No restriction is needed after sample collection. Wait for the report to be delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose is to identify pathogenic variants in the UBE3B gene to confirm or exclude Blepharophimosis-Ptosis-Intellectual Disability Syndrome in a symptomatic individual and to inform clinical management and family counselling.

How to Prepare

  • Use EDTA tube for whole blood collection
  • Label the sample with patient name and unique ID
  • Do not freeze whole blood
  • Transport FTA card at room temperature
  • Submit the test requisition form and clinical history

Doctor's Notes

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

"This test should be considered in children with unexplained blepharophimosis, ptosis and developmental delay. Because BPIDS is rare, a multidisciplinary approach involving a pediatric neurologist and clinical geneticist is essential for accurate interpretation. Pre-test genetic counselling helps families understand the limitations and possible outcomes of the test."

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 protocol
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: transport at room temperature, preferably within 24 hours
FTA card: stable at room temperature
Extracted DNA: store at -20 Degree Celsius
Sample Rejection Criteria:
  • Hemolysed or clotted blood
  • Insufficient sample quantity
  • Sample received in incorrect anticoagulant tube
  • Sample without proper labelling or requisition form
  • Sample exposed to extreme temperature causing DNA degradation

Understanding Your Results

The result of this NGS genetic test is intended to support clinical diagnosis and should be interpreted by a qualified clinical geneticist or treating clinician in the context of the patient's full medical and family history.
Negative: No pathogenic or likely pathogenic variant identified in UBE3B; does not exclude a genetic cause
Positive: Pathogenic or likely pathogenic variant identified; supports the clinical diagnosis
Variant of uncertain significance: A genetic change was found, but its clinical significance is not yet established
Clinical correlation: The genotype must be correlated with clinical phenotype, family history, and physical examination
⚠️ When to Consult a Doctor:

Consult a doctor if the individual has blepharophimosis, ptosis, intellectual disability, speech delay, hypotonia, or seizures; if the NGS result is positive or shows a variant of uncertain significance; or if there is a family history of UBE3B-related syndrome and reproductive counselling is needed.

Limitations

  • ⚠NGS may not detect all types of variants, including deep intronic variants, large deletions, repeat expansions, or methylation defects
  • ⚠Low-level mosaicism may be missed
  • ⚠Coverage gaps in the UBE3B gene can reduce sensitivity
  • ⚠Variants of uncertain significance may require additional family studies
  • ⚠The test is not a substitute for comprehensive clinical evaluation or genetic counselling

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare vasovagal response during blood collection
  • ●Uncommon infection at the venipuncture site

Interfering Factors

  • ●Poor DNA quality or insufficient quantity
  • ●Sample contamination
  • ●PCR amplification artifacts
  • ●Mislabeling or sample mix-up
  • ●Low-level somatic mosaicism
  • ●Large structural rearrangements not detected by standard NGS

Compare With Similar Tests

TestUBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test
ComparisonUBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test

Frequently Asked Questions

What is UBE3B gene associated with?
Mutations in the UBE3B gene cause blepharophimosis-ptosis-intellectual disability syndrome, a rare neurodevelopmental disorder.
What is the cost of this NGS genetic test?
The test price is Rs 20000 at DNA Labs India, including free home sample collection across India.
Which sample is required for the UBE3B NGS test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for this test.
Is fasting required before the test?
No fasting is required. The sample can be collected at any time of day.
How long will the test report take?
The report is usually issued within 3 to 4 weeks after sample receipt.
Does DNA Labs India provide raw data files?
Yes. DNA Labs India shares raw data files such as FASTQ and VCF along with the conclusive clinical report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
Who should take this UBE3B NGS genetic test?
Individuals with blepharophimosis, ptosis, intellectual disability, hypotonia, seizures, or a family history of BPIDS may be candidates for this test.
Can an ophthalmologist order this test?
Yes. Ophthalmologists and other specialists may order the test after clinical evaluation and genetic counselling.
What does a negative result mean?
A negative result means no pathogenic UBE3B variant was detected; however, it does not completely exclude a genetic cause.
What is a variant of uncertain significance (VUS)?
A VUS means the test found a genetic change whose clinical impact is not yet known. Further family studies may be required.
Is this test covered by insurance?
Most insurance schemes do not cover this test. Patients should verify with their insurer, CGHS, ECHS, PMJAY, or private policy.
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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