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Medical information Clinical review pending

Genetic Testing

UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome Genetic Test

Genetic test analyzing the UBE3B gene to identify mutations associated with blepharophimosis, ptosis, and intellectual disability syndrome. Uses Next-Generation Sequencing (NGS).

General information only: This page is not a diagnosis or personal medical advice. A qualified clinician should decide whether testing is appropriate and interpret results in context.

Review status: No completed medical review is recorded for this page.

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Counselor guidance included Confidential handling Kenya-wide coordination

At a glance

Plan your test

Sample
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is required for this test. Confirm with the laboratory before booking.
Test priceKSh 40,000

Payment: M-Pesa and card options can be confirmed during booking.

Insurance & government schemes

Is this test covered for you?

We help you verify whether the UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome Genetic Test test can be claimed against your insurer, employer scheme or a Kenyan government health scheme — before you book. Coverage depends on your plan, clinical indication and your provider's rules; final approval always rests with them.

Talk to a claims advisor

Providers & schemes we can help you check

Government & public schemes

SHIF — Social Health Insurance Fund Linda Mama EduAfya NHIF (legacy cards)

Eligibility and benefits follow the current rules of the Social Health Authority (SHA) and applicable government programmes.

Private insurers & employer schemes

Jubilee Health AAR APA Britam CIC Madison Resolution Pioneer Minet Old Mutual GA Life Heritage + other licensed insurers

Names shown for identification only — listing does not imply partnership or guarantee of coverage.

Have these ready when we check

  • Insurer or scheme name & policy / member number
  • A clinician's request / prescription for the test
  • Pre-authorisation letter, if your plan requires one

Free coverage check

Ask us to verify your cover

Send your details and our claims team confirms what documents you need and whether pre-authorisation applies — usually the same working day.

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Used only to process your coverage check — see our Privacy Policy. Verification support is free and does not guarantee your provider will pay.

01

Start with fit

Is this the right test for you?

The best test starts with a clear clinical question. These are common reasons a clinician or family may consider this test.

  • ✓Individuals with symptoms of blepharophimosis (difficulty opening eyes)
  • ✓Individuals with ptosis (drooping eyelids)
  • ✓Individuals with intellectual disability or developmental delay
  • ✓Family history of Blepharophimosis-ptosis-Intellectual Disability Syndrome
  • ✓Referral from an ophthalmologist or genetic counselor
02

In plain language

What this test helps you understand

This test helps identify specific genetic mutations in the UBE3B gene that are linked to Blepharophimosis-ptosis-Intellectual Disability Syndrome. Identifying these mutations can confirm a diagnosis, guide management, and inform genetic counseling for affected individuals and their families.
The UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome NGS Genetic DNA Test is an advanced diagnostic tool designed to identify genetic mutations associated with blepharophimosis, ptosis, and intellectual disabilities. This test is vital for those who exhibit symptoms related to these conditions, as it can provide critical insights into the genetic factors at play.

This genetic test specifically analyzes the UBE3B gene using Next-Generation Sequencing (NGS) technology. It detects mutations that may lead to various ophthalmological disorders and associated intellectual disabilities.

Individuals who experience symptoms such as severe drooping of the eyelids (ptosis), difficulty in opening the eyes (blepharophimosis), intellectual disabilities or developmental delays, or have a family history of similar genetic conditions should consider undergoing this genetic test. Additionally, those referred by an ophthalmologist or genetic counselor may benefit from this assessment.

Benefits of taking this test include the identification of genetic causes of blepharophimosis and associated conditions, guidance for treatment options and management strategies, informed family planning decisions based on genetic risks, and access to specialized care and support resources.

Upon completion of the test, results will be provided. It is essential to discuss these results with a healthcare provider or genetic counselor to understand their implications fully. They can help interpret the findings and recommend any further steps or interventions.

We have branches across major cities in Kenya, making it easy for you to access this essential genetic test. For those unable to visit our facilities, we also offer a home sample collection service.

To book the UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
03

Medical review status

Clinical review pending

A completed medical review is not recorded for this page. No clinician has endorsed the information shown here. Please discuss testing decisions with a qualified healthcare professional.

Meet the DNA Labs Kenya medical team →
04

A simple process

What happens next?

You do not have to navigate the test alone. We help you move from question to next step.

1

Speak with us

We check the test and answer your questions before collection.

2

Give your sample

Choose home collection or a coordinated hub visit in Kenya. We explain whether this test uses a cheek swab or blood draw.

3

Understand your report

A counselor helps you understand the result and the next steps.

05

Choose your collection

Home collection or a lab visit

We will explain the sample, preparation, and next steps before anything is collected.

Home collection

Choose a coordinated visit at home or another convenient location. Our team confirms the appointment and sample requirements in advance.

Lab or hub visit

Prefer to visit a coordinated location? We can guide you to the right hub and explain what to expect when you arrive.

Ask about locations →
PreparationNo special preparation is required for this test. Confirm with the laboratory before booking.
SampleBlood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
MethodologyNext-Generation Sequencing (NGS) analysis of the UBE3B gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes specific regions of the UBE3B gene. It may not detect all possible mutations, such as deep intronic changes or large deletions/duplications not detectable by NGS. A negative result does not completely rule out a genetic cause for the symptoms. Confirm with the laboratory before booking.
06

Read your report

What common result terms mean

PositiveA finding was identified. Your clinician or counselor will explain what it means for your care.
NegativeThe specific finding tested for was not identified. It does not rule out every possible cause.
VUSA variant was found, but current evidence is not enough to classify it. Your counselor can explain follow-up.
07

Questions people ask

Frequently asked questions

This is a genetic disorder characterized by difficulty opening the eyes (blepharophimosis), drooping eyelids (ptosis), and varying degrees of intellectual disability.
Individuals showing symptoms like severe ptosis, blepharophimosis, or intellectual disability, especially with a family history, should consider this test.
The test analyzes your DNA, typically from a blood or saliva sample, to look for specific changes (mutations) in the UBE3B gene.
The test is highly accurate for detecting mutations within the analyzed regions of the UBE3B gene. However, it may not detect all possible genetic changes. Discuss limitations with your doctor.
Confirm with the laboratory before booking.
Results should be discussed with your doctor or a genetic counselor who can explain the findings and their implications for your health and family.
08

Collaboration

Open for partnership with hospitals, clinics, doctors & researchers

Whether you are referring patients, building a research programme or supporting students, we work as an extension of your team — with responsive communication and clear scientific standards.

Hospitals & clinics

Referral pathways, coordinated sample logistics and shared reporting that fits your clinical workflow.

Doctors & specialists

LOINC-coded reports, ACMG-based variant classification and a direct scientific line for complex cases.

Research institutions

Sanger sequencing, NGS panels and custom assays — with project design support, batch pricing and agreed turnaround commitments.

Students & academic projects

Discounted laboratory services for college, master's and PhD research projects — including proposal guidance and cost-effective batch testing.

Explore partnerships
09

Trust & transparency

Sources, standards & how this page is maintained

Standards & references

  • ACMG/AMP technical standards for sequence variant interpretation
  • ClinGen curation and gene–disease validity frameworks where applicable
  • LOINC-coded reporting for interoperable results
  • ISO 9001:2015 quality management; ISO 15189 accreditation in progress

Page provenance

  • Last updated: September 27, 2026
  • Medical review: not yet completed
  • Written for patients & clinicians in Kenya; reviewed periodically against current guidance

Medical disclaimer: this page is general information, not a diagnosis or personal medical advice. Testing decisions and result interpretation should be made with a qualified healthcare professional.

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