Skip to main content
Medical information Clinical review pending

Genetic Testing

Nx Gen Sequencing Alkaptonuria Test

The Nx Gen Sequencing Alkaptonuria Test uses advanced genetic analysis to detect mutations associated with Alkaptonuria, a rare inherited metabolic disorder. Early diagnosis is key for managing this condition.

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.

Ask a question
Counselor guidance included Confidential handling Kenya-wide coordination

At a glance

Plan your test

Sample
10 mL (5 mL minimum) of whole blood collected in two Lavender Top (EDTA) tubes.
Results
Confirm with the laboratory before booking.
Preparation
No specific patient preparation is required for this blood test. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test priceKSh 46,800

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 Nx Gen Sequencing Alkaptonuria 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.

+254

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 Alkaptonuria (e.g., dark urine, joint pain, skin discoloration).
  • ✓Family history of Alkaptonuria.
  • ✓Diagnosis of osteoarthritis at an unusually young age.
  • ✓Confirmation of suspected Alkaptonuria.
  • ✓Genetic counseling for individuals with a family history of the disorder.
02

In plain language

What this test helps you understand

This test helps confirm or rule out a diagnosis of Alkaptonuria by identifying specific genetic mutations in the HGD gene. It aids in understanding the underlying cause of symptoms and guides management strategies.
The Nx Gen Sequencing Alkaptonuria Test is a diagnostic tool used to identify Alkaptonuria, a rare inherited metabolic disorder. This condition occurs when the body cannot properly break down homogentisic acid, leading to its accumulation and potential damage to joints and tissues over time.

This test utilizes Next Generation Sequencing (NGS) and Sanger sequencing methods to analyze DNA from a blood sample. It specifically looks for variations in the HGD gene, which provides instructions for making the enzyme needed to process homogentisic acid.

Early diagnosis through genetic testing is important for understanding the condition, managing symptoms, and making informed decisions about treatment and family planning. Discussing the results with a healthcare provider is essential for proper interpretation.
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 patient preparation is required for this blood test. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Sample10 mL (5 mL minimum) of whole blood collected in two Lavender Top (EDTA) tubes.
MethodologyNext Generation Sequencing (NGS) and Sanger sequencing.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test detects specific mutations in the HGD gene known to cause Alkaptonuria. It may not detect all possible mutations. A negative result does not completely rule out the condition if clinical suspicion is high. 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

Alkaptonuria is a rare inherited metabolic disorder where the body cannot properly process homogentisic acid, leading to its buildup and potential health issues like joint damage.
The test analyzes a blood sample to look for specific genetic mutations in the HGD gene associated with Alkaptonuria.
Early diagnosis allows for timely management of symptoms, potential treatment options, and informed family planning.
A positive result indicates the presence of mutations associated with Alkaptonuria. It's important to discuss this with your doctor for interpretation.
No, fasting is not required for this blood test.
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.

Keep exploring

Related tests

View all tests →
Chat on WhatsApp