Medical information Clinical review pending

Genetic Testing

ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test

Genetic test to identify mutations in the ASCL1 gene associated with congenital central hypoventilation syndrome (CHS), a condition affecting breathing control during sleep.

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 (typically 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 a blood draw. However, providing a detailed clinical history and family medical history (pedigree chart if available) is helpful for interpreting results. Discuss any specific instructions with your doctor or the laboratory.

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 ASCL1 Gene Central Hypoventilation Syndrome Congenital 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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+254

Insurer or scheme

Policy / member number (optional)

Used only to process your coverage check — see our Privacy Policy. Verification support is free and does not guarantee your provider will pay.

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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.

✓Suspected diagnosis of congenital central hypoventilation syndrome (CHS).
✓Family history of CHS.
✓Unexplained respiratory issues, particularly during sleep.
✓Symptoms suggestive of CHS, such as sleep apnea or fatigue.
✓Genetic counseling for families with a history of CHS.

In plain language

What this test helps you understand

This test helps identify individuals with genetic mutations in the ASCL1 gene, which are associated with congenital central hypoventilation syndrome (CHS). Identifying these mutations can aid in diagnosis, prognosis, and genetic counseling for affected individuals and their families.

The ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test is a specialized diagnostic tool used to detect genetic changes in the ASCL1 gene. These changes are linked to congenital central hypoventilation syndrome (CHS), a rare disorder where the body doesn't automatically control breathing, especially during sleep. This test uses advanced Next Generation Sequencing (NGS) technology to analyze the ASCL1 gene for specific mutations. Early diagnosis is important for managing CHS and preventing potential health complications. Understanding your genetic predisposition can help you and your healthcare provider make informed decisions about treatment and care.

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.

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A simple process

What happens next?

You do not have to navigate the test alone. We help you move from question to next step.

Speak with us

We check the test and answer your questions before collection.

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.

Understand your report

A counselor helps you understand the result and the next steps.

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, providing a detailed clinical history and family medical history (pedigree chart if available) is helpful for interpreting results. Discuss any specific instructions with your doctor or the laboratory.

SampleBlood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.

MethodologyNext Generation Sequencing (NGS) is used to analyze the ASCL1 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 ASCL1 gene. CHS can sometimes be caused by mutations in other genes not covered by this test. A negative result does not completely rule out CHS. Results may be affected by sample quality. Confirm with the laboratory before booking.

Read your report

What common result terms mean

TermPlain-language meaning

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.

Questions people ask

Frequently asked questions

CHS is a rare genetic disorder affecting the automatic control of breathing, especially during sleep. It can lead to low oxygen levels and high carbon dioxide levels in the blood.

The ASCL1 gene provides instructions for making a protein important for the development and function of certain nerve cells, including those involved in controlling breathing.

Individuals with symptoms suggestive of CHS, a family history of the condition, or those referred by a specialist like a neurologist or genetic counselor should consider this test.

A genetic counselor or physician will interpret the results, explaining the presence or absence of mutations in the ASCL1 gene and their implications for health and family members.

Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.

Turnaround time can vary. Please confirm the current estimated turnaround time with the laboratory before booking.

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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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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