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Medical information Clinical review pending

Genetic Testing

NBAS Gene Short Stature Optic Nerve Atrophy and Pelger-Huet Anomaly Genetic Test

Genetic test to identify mutations in the NBAS gene associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. Provides insights for diagnosis and management.

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 (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is typically required for this blood test. However, confirm with the laboratory for any specific instructions.
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 NBAS Gene Short Stature Optic Nerve Atrophy and Pelger-Huet Anomaly 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 unexplained short stature.
  • ✓Patients presenting with symptoms of optic nerve atrophy.
  • ✓Individuals with a Pelger-Huet anomaly.
  • ✓Family history of NBAS-related disorders.
  • ✓Confirmation of suspected NBAS gene mutation.
  • ✓Genetic counseling for families with related conditions.
02

In plain language

What this test helps you understand

This test helps identify specific genetic mutations in the NBAS gene, aiding in the diagnosis of conditions associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. It can provide a definitive diagnosis, guide management strategies, and inform family planning.
The NBAS Gene Short Stature Optic Nerve Atrophy and Pelger-Huet Anomaly NGS Genetic DNA Test is a specialized genetic analysis designed to detect mutations within the NBAS gene. These mutations are linked to specific developmental disorders characterized by short stature, optic nerve atrophy (affecting vision), and the Pelger-Huet anomaly (a blood cell abnormality). Understanding your genetic information related to the NBAS gene can be crucial for diagnosing these conditions and guiding appropriate medical care. This test analyzes your DNA to identify any significant changes in the NBAS gene sequence. It is particularly relevant for individuals presenting with symptoms suggestive of these conditions or those with a family history of related genetic disorders. Genetic counseling is often recommended before and after testing to help interpret the results and understand their implications for personal health and family planning.
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 typically required for this blood test. However, confirm with the laboratory for any specific instructions.
SampleBlood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
MethodologyNext-Generation Sequencing (NGS) is used to analyze the NBAS gene for mutations.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the NBAS gene. It may not detect mutations in other genes that could cause similar symptoms. Results should be interpreted in the context of clinical findings and family history. A negative result does not completely rule out a genetic cause for the symptoms.
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

The NBAS gene provides instructions for making a protein important for normal cell function and development. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly.
Individuals experiencing symptoms like short stature, vision problems related to optic nerve atrophy, or having a Pelger-Huet anomaly, or a family history of these conditions, may be candidates for this test. Consult your doctor.
A blood sample is typically required for this test. We offer convenient sample collection options, including home visits in major cities. Confirm collection details with the laboratory.
Turnaround time can vary. Please confirm the expected timeframe with the laboratory before booking your test.
Results will indicate whether specific mutations in the NBAS gene were detected. A genetic counselor or your doctor can help interpret the results in the context of your health history.
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.

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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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