Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
Piezo2 Gene Marden-Walker Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
RAB3GAP2 Gene Martsolf Syndrome Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
ORC1 Gene Meier-Gorlin Syndrome Type 1 Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
4 Weeks3 to 4 Weeks.
KSh 40,000
ORC4 Gene Meier-Gorlin Syndrome Type 2 Genetic Test
First-line screen
A blood sample (usually 5-10ml) is required. Confirm specific sample type and volume with the laboratory before collection.
Timing on request
KSh 40,000
Cdt1 Gene Meier-Gorlin Syndrome Type 4 Genetic Test
First-line screen
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before collection.
Timing on request
KSh 40,000
TRIM37 Gene Mulibrey Nanism Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
NBN Gene Nijmegen Breakage Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Timing on request
KSh 40,000
MED12 Gene Opitz-Kaveggia Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Timing on request
KSh 40,000
SUMO1 Gene Orofacial Cleft Type 10 Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
Nectin1 Gene Orofacial Cleft Type 7 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
GLI3 Gene Pallister-Hall Syndrome 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
LBR Gene Pelger-Huet Anomaly 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
LAMC1 Gene Pelvic Organ Prolapse LAMC1 Related Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
CHRM3 Gene Prune Belly Syndrome Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks. Confirm the current turnaround time with the laboratory before booking.
KSh 40,000
Esco2 Gene Roberts Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
WNT5A Gene Robinow Syndrome Autosomal Dominant Type 1 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
DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Timing on request
KSh 40,000
TWIST1 Gene Robinow-Sorauf Syndrome 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
TWIST1 Gene SaethreChotzen Syndrome Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
4 WeeksTypically 3 to 4 weeks.
KSh 40,000
CENPJ Gene Seckel Syndrome Type 4 Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
Pik3R1 Gene Short Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or without Polydactyly Genetic Test
First-line screen
Blood sample (EDTA tube) or Extracted DNA. Alternatively, one drop of blood on an FTA Card.
Timing on request
KSh 40,000
COL2A1 Gene SMED Strudwick Type Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Timing on request
KSh 40,000
LIFR Gene Stuve-Wiedemann Syndrome Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific volume and collection tube type with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
Hoxd13 Gene Syndactyly Type 1 Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Timing on request
KSh 40,000
BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
RBM10 Gene Tarp Syndrome 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
KCNH1 Gene Temple-Baraitser Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
4 Weeks3 to 4 weeks.
KSh 40,000
CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
First-line screen
Piezo2 Gene Marden-Walker Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
RAB3GAP2 Gene Martsolf Syndrome Genetic Test
Sample type
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
ORC1 Gene Meier-Gorlin Syndrome Type 1 Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 Weeks3 to 4 Weeks.
Price
KSh 40,000
First-line screen
ORC4 Gene Meier-Gorlin Syndrome Type 2 Genetic Test
Sample type
A blood sample (usually 5-10ml) is required. Confirm specific sample type and volume with the laboratory before collection.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Cdt1 Gene Meier-Gorlin Syndrome Type 4 Genetic Test
Sample type
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before collection.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
TRIM37 Gene Mulibrey Nanism Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
NBN Gene Nijmegen Breakage Syndrome Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
MED12 Gene Opitz-Kaveggia Syndrome Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
SUMO1 Gene Orofacial Cleft Type 10 Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Nectin1 Gene Orofacial Cleft Type 7 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
GLI3 Gene Pallister-Hall Syndrome 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
LBR Gene Pelger-Huet Anomaly 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
LAMC1 Gene Pelvic Organ Prolapse LAMC1 Related Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
CHRM3 Gene Prune Belly Syndrome Genetic Test
Sample type
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks. Confirm the current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
Esco2 Gene Roberts Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
WNT5A Gene Robinow Syndrome Autosomal Dominant Type 1 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
DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
TWIST1 Gene Robinow-Sorauf Syndrome 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
TWIST1 Gene SaethreChotzen Syndrome Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 WeeksTypically 3 to 4 weeks.
Price
KSh 40,000
First-line screen
CENPJ Gene Seckel Syndrome Type 4 Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
Pik3R1 Gene Short Syndrome Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or without Polydactyly Genetic Test
Sample type
Blood sample (EDTA tube) or Extracted DNA. Alternatively, one drop of blood on an FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
COL2A1 Gene SMED Strudwick Type Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
LIFR Gene Stuve-Wiedemann Syndrome Genetic Test
Sample type
A blood sample is required for this test. Confirm specific volume and collection tube type with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
Hoxd13 Gene Syndactyly Type 1 Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
RBM10 Gene Tarp Syndrome 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
KCNH1 Gene Temple-Baraitser Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
Clinical context
Clinical testing guide & how to choose
Tests in Other Sensory & Ophthalmogenetic Disorders 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 Other Sensory & Ophthalmogenetic Disorders?+
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.
