Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
RAB23 Gene Carpenter Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or saliva sample. Confirm with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
MEGF8 Gene Carpenter Syndrome Type 2 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. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
VANGL1 Gene Caudal Regression 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
CHD7 Gene CHARGE Syndrome 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.
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
CHM Gene Choroideremia Genetic Test
First-line screen
Blood sample (EDTA tube) or dried blood spot on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
PITX1 Gene Club Foot 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
LONP1 Gene CODAS Syndrome 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
SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related 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
HRAS Gene Costello Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
4 WeeksTypically 3 to 4 weeks.
KSh 40,000
SOST Gene Craniodiaphyseal Dysplasia Autosomal Dominant Genetic Test
First-line screen
A blood sample is typically required for this test. Confirm specific sample requirements with the laboratory before collection.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
MNX1 Gene Currarino 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
ERCC6 Gene De Sanctis-Cacchione 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
XYLT1 Gene Desbuquois Dysplasia Type 2 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
DHCR24 Gene Desmosterolosis Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or dried blood spot (FTA card). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
Lrp2 Gene Donnai-Barrow Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
FGD1 Gene Faciogenital Dysplasia 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
MYCN Gene Feingold Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or DNA extracted from a suitable source (e.g., saliva, tissue). Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
BCS1L Gene GRACILE Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
IRX5 Gene Hamamy 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
FAT4 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2 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
RBBP8 Gene Jawad Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
4 Weeks3 to 4 weeks.
KSh 40,000
MGP Gene Keutel Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
GDF6 Gene Klippel-Feil Syndrome Type 1 Autosomal Dominant Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
GDF3 Gene Klippel-Feil Syndrome Type 3 Autosomal Dominant 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
EXT1 Gene Langer-Giedion Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
TRPS1 Gene Langer-Giedion Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
FLNB Gene Larsen Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
BRAF Gene LEOPARD Syndrome Type 3 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. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
FOXC2 Gene Lymphedema-Distichiasis Syndrome 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
RAB23 Gene Carpenter Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or saliva sample. Confirm with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
MEGF8 Gene Carpenter Syndrome Type 2 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. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
VANGL1 Gene Caudal Regression 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
CHD7 Gene CHARGE Syndrome 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
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
CHM Gene Choroideremia Genetic Test
Sample type
Blood sample (EDTA tube) or dried blood spot on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
PITX1 Gene Club Foot 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
LONP1 Gene CODAS Syndrome 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
SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related 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
HRAS Gene Costello Syndrome Genetic Test
Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 WeeksTypically 3 to 4 weeks.
Price
KSh 40,000
First-line screen
SOST Gene Craniodiaphyseal Dysplasia Autosomal Dominant Genetic Test
Sample type
A blood sample is typically required for this test. Confirm specific sample requirements with the laboratory before collection.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
MNX1 Gene Currarino 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
ERCC6 Gene De Sanctis-Cacchione 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
XYLT1 Gene Desbuquois Dysplasia Type 2 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
DHCR24 Gene Desmosterolosis Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot (FTA card). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Lrp2 Gene Donnai-Barrow Syndrome 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
First-line screen
FGD1 Gene Faciogenital Dysplasia 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
MYCN Gene Feingold Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or DNA extracted from a suitable source (e.g., saliva, tissue). 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
BCS1L Gene GRACILE Syndrome Genetic Test
Sample type
Blood sample (EDTA tube). 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
IRX5 Gene Hamamy 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
FAT4 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2 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
RBBP8 Gene Jawad Syndrome Genetic Test
Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
MGP Gene Keutel Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
GDF6 Gene Klippel-Feil Syndrome Type 1 Autosomal Dominant Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
GDF3 Gene Klippel-Feil Syndrome Type 3 Autosomal Dominant 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
EXT1 Gene Langer-Giedion Syndrome Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
TRPS1 Gene Langer-Giedion Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
FLNB Gene Larsen Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
BRAF Gene LEOPARD Syndrome Type 3 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. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
FOXC2 Gene Lymphedema-Distichiasis Syndrome 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 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.