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Medical information Clinical review pending

Genetic Testing

SBDS Gene Shwachman-Diamond Syndrome Genetic Test

Genetic test to identify mutations in the SBDS gene, aiding in the diagnosis of Shwachman-Diamond Syndrome (SDS), a rare disorder affecting bone marrow and pancreas.

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
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Results
Results are typically available within 3 to 4 weeks. Confirm the current turnaround time with the laboratory before booking.
Preparation
No special preparation is typically required for a blood draw. 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 SBDS Gene Shwachman-Diamond 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 suggestive of Shwachman-Diamond Syndrome (e.g., recurrent infections, low blood cell counts, pancreatic insufficiency).
  • ✓Family members of individuals diagnosed with Shwachman-Diamond Syndrome.
  • ✓Patients with unexplained hematological disorders or pancreatic insufficiency.
  • ✓Prenatal diagnosis in families with a known history of SDS.
  • ✓Confirmation of diagnosis in suspected cases.
02

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Shwachman-Diamond Syndrome by identifying mutations in the SBDS gene. It can guide treatment strategies and provide information for genetic counseling.
The SBDS Gene Shwachman-Diamond Syndrome NGS Genetic DNA Test is a diagnostic tool used to identify mutations in the SBDS gene associated with Shwachman-Diamond Syndrome (SDS). SDS is a rare genetic condition that primarily affects the bone marrow and pancreas, often leading to problems with blood cell production and digestion. Early diagnosis through genetic testing is important for managing the condition effectively. This test uses Next Generation Sequencing (NGS) technology to analyze the SBDS gene for specific changes. It is recommended for individuals showing symptoms suggestive of SDS or those with a family history of the condition. Understanding the genetic basis of SDS can help guide treatment decisions and provide valuable information for 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 a blood draw. However, confirm with the laboratory for any specific instructions.
SampleA blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) is used to analyze the SBDS gene for mutations.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes the SBDS gene. It may not detect all possible mutations or other genetic conditions that could cause similar symptoms. A negative result does not completely rule out Shwachman-Diamond Syndrome. Genetic counseling is recommended to interpret results.
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

Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder that affects the bone marrow, pancreas, and skeleton, leading to issues like low blood cell counts and digestive problems.
Testing is recommended for individuals with symptoms like recurrent infections, low blood counts, or pancreatic issues, as well as those with a family history of SDS.
The test uses advanced NGS technology for accurate detection of mutations in the SBDS gene. However, it may not detect all possible mutations.
A genetic counselor will help explain your results and discuss their implications for your health and family planning.
Insurance coverage varies. Confirm with your insurance provider and the laboratory regarding coverage and costs.
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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