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Genetic Testing

SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome Genetic Test

Genetic test to identify mutations in the SLC19A2 gene, associated with thiamine-responsive megaloblastic anemia syndrome. Helps diagnose the genetic cause of certain types of anemia.

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 with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No specific fasting is required. A clinical history and family history (pedigree chart if possible) are helpful for interpretation. Discuss with your doctor.
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 SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia 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 megaloblastic anemia (e.g., fatigue, weakness, pallor).
  • ✓Patients with a family history of thiamine-responsive megaloblastic anemia syndrome.
  • ✓Cases of unexplained anemia unresponsive to conventional treatment.
  • ✓Confirmation of suspected TRMA diagnosis.
02

In plain language

What this test helps you understand

This test helps identify the genetic cause of thiamine-responsive megaloblastic anemia syndrome, aiding in diagnosis and guiding treatment strategies, particularly thiamine supplementation.
This genetic test looks for changes (mutations) in the SLC19A2 gene. Mutations in this gene can cause Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA), a condition where the body doesn't properly absorb or use thiamine (Vitamin B1). This can lead to megaloblastic anemia, characterized by larger-than-normal red blood cells, fatigue, weakness, and other symptoms.

This test uses Next Generation Sequencing (NGS) technology to analyze your DNA for specific mutations in the SLC19A2 gene. Identifying these mutations can help confirm a diagnosis, understand the cause of anemia, and guide appropriate treatment, which often involves thiamine supplementation.

This test is recommended for individuals with symptoms suggestive of megaloblastic anemia, those with a family history of TRMA, or cases of anemia that don't respond to standard treatments. Discuss with your doctor if this test is right for you.
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 specific fasting is required. A clinical history and family history (pedigree chart if possible) are helpful for interpretation. Discuss with your doctor.
SampleBlood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) of the SLC19A2 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically analyzes the SLC19A2 gene. It does not detect mutations in other genes that can cause megaloblastic anemia. Results must be interpreted by a qualified healthcare professional in conjunction with clinical findings.
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

It is a rare genetic disorder affecting thiamine (Vitamin B1) transport, leading to megaloblastic anemia and potentially other symptoms. It often responds well to thiamine supplementation.
Individuals with symptoms of megaloblastic anemia, a family history of the condition, or anemia not responding to standard treatments may be candidates. Consult your doctor.
The test requires a blood sample. Your DNA is then analyzed for mutations in the SLC19A2 gene using Next Generation Sequencing (NGS).
A qualified healthcare professional will interpret the results. The presence of a mutation in the SLC19A2 gene suggests TRMA. Your doctor will discuss the findings and implications.
Your doctor will use the results, along with your clinical history, to confirm a diagnosis and recommend appropriate management, which may include thiamine therapy.
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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