Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Timing on request
KSh 40,000
Sox10 Gene Peripheral Demyelinating Neuropathy Waardenburg Syndrome and Hirschsprung Disease Genetic Test
First-line screen
A blood sample is required for this test. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
EDNRB Gene Waardenburg Syndrome/Hirschsprung Disease Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
PHOX2B Gene Central Hypoventilation Syndrome With or Without Hirschsprung Disease Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test
First-line screen
A blood sample is required for this test. Confirm with the laboratory before booking for specific collection instructions.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
ECE1 Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of blood on FTA Card.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
EDN3 Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
EDNRB Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
KIF1BP Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
NRG1 Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
NRTN Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
RET Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
ZEB2 Gene Hirschsprung Disease Genetic Test
First-line screen
Blood sample, extracted DNA, or one drop of blood on an FTA card.
4 Weeks3 to 4 weeks.
KSh 40,000
GDNF Gene Hirschsprung Disease Type 3 Susceptibility to Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
First-line screen
PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test
Sample type
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Sox10 Gene Peripheral Demyelinating Neuropathy Waardenburg Syndrome and Hirschsprung Disease Genetic Test
Sample type
A blood sample is required for this test. Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
EDNRB Gene Waardenburg Syndrome/Hirschsprung Disease Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
PHOX2B Gene Central Hypoventilation Syndrome With or Without Hirschsprung Disease Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test
Sample type
A blood sample is required for this test. Confirm with the laboratory before booking for specific collection instructions.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
ECE1 Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop of blood on FTA Card.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
EDN3 Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
EDNRB Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
KIF1BP Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
NRG1 Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
NRTN Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
RET Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
ZEB2 Gene Hirschsprung Disease Genetic Test
Sample type
Blood sample, extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
GDNF Gene Hirschsprung Disease Type 3 Susceptibility to Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
Clinical context
Clinical testing guide & how to choose
Tests in Hirschsprung Disease & Intestinal Motility Genetics answer different clinical questions. This catalogue supports a conversation with your clinician or counselor; it does not establish a diagnosis or replace an individual assessment.
Choosing a test
A comprehensive panel measures several related markers, while a single-marker test addresses a more focused question. A larger panel is not automatically the right choice. Discuss your symptoms, previous results and referral with a qualified clinician before selecting tests. Results should not be interpreted in isolation.
Before sample collection
Confirm the required tube, sample volume, any fasting instructions and the collection deadline for your chosen test. Tell the collection team about medication and recent treatment. Do not stop prescribed medication unless your clinician advises it. Home collection depends on the sample’s handling and transport requirements.
Common questions
Questions before booking
Should I choose a panel or a single-marker test for Hirschsprung Disease & Intestinal Motility Genetics?+
A comprehensive panel measures several related markers, while a single-marker test addresses a more focused question. A larger panel is not automatically the right choice. Discuss your symptoms, previous results and referral with a qualified clinician before selecting tests. Results should not be interpreted in isolation. Free pre-test counselor guidance is available to help you understand the booking options.
Can I use SHIF/SHA or private insurance for these tests?+
Coverage depends on your scheme, the specific test, referral and authorization requirements, and the provider arrangement. Before booking, ask the laboratory and your insurer to verify eligibility, any co-payment, and whether direct billing or reimbursement applies. Listing a test here does not guarantee insurance coverage.
When should I arrange sample collection?+
Check the sample and preparation notes for the specific test, then confirm the collection time and reporting deadline with the laboratory. Same-day reporting, where listed, may depend on a collection cutoff and working days. Nationwide and home sample collection are available subject to location, sample suitability and transport arrangements.
Book a genetic test
A counselor will help confirm the right next step.