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Genetic Testing

PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 Genetic Test

This genetic test identifies mutations in the PGAP2 gene, associated with Hyperphosphatasia with Mental Retardation Syndrome Type 3. It uses Next Generation Sequencing (NGS) technology to provide accurate diagnostic information.

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 special preparation is typically 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 PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 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 Hyperphosphatasia with Mental Retardation Syndrome Type 3.
  • ✓Developmental delay or intellectual disability.
  • ✓Presence of dysmorphic features.
  • ✓Family history of PGAP2-related disorders.
  • ✓Confirmation of diagnosis in suspected cases.
  • ✓Genetic counseling for affected families.
02

In plain language

What this test helps you understand

Diagnosis of Hyperphosphatasia with Mental Retardation Syndrome Type 3 (PGAP2-related). Identification of specific mutations in the PGAP2 gene. Guidance for clinical management and genetic counseling.
The PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 NGS Genetic DNA Test is an advanced genetic test using Next Generation Sequencing (NGS) technology. It is designed to identify mutations within the PGAP2 gene. This test is important for diagnosing hyperphosphatasia and associated cognitive impairments. Understanding the genetic basis of these conditions can help guide clinical management and family planning.

This test specifically looks for variations in the PGAP2 gene, which are known to be linked to Hyperphosphatasia with Mental Retardation Syndrome Type 3. Identifying these genetic changes can help healthcare providers understand the cause of a patient's symptoms.

This test is typically recommended for individuals who show signs of dysmorphology (physical abnormalities) or cognitive impairment. A family history of genetic disorders, especially those related to hyperphosphatasia, might also suggest this test. If you or your child experiences developmental delays, learning disabilities, or unusual physical features, discuss this test with your doctor.

Benefits of this test include providing an accurate diagnosis, guiding treatment decisions, informing family planning, and connecting individuals with appropriate support services. Results will be provided in a clear format, and a genetic counselor can help interpret the findings and their implications.
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 test. Confirm with the laboratory before booking.
SampleBlood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) of the PGAP2 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes the PGAP2 gene specifically. 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. 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 rare genetic disorder characterized by high levels of alkaline phosphatase in the blood (hyperphosphatasia) and varying degrees of intellectual disability or developmental delay.
Individuals showing symptoms like developmental delays, intellectual disability, or specific physical features, especially if there's a family history, should discuss testing with their doctor.
NGS technology provides high accuracy in detecting mutations within the PGAP2 gene. However, it's important to interpret results alongside clinical information.
If mutations are found, a genetic counselor can help explain the results, their implications for health, and potential risks for family members.
Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.
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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