Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
Nx Gen Sequencing Hereditary Retinoblastoma Test
First-line screen
10 mL (5 mL minimum) whole blood collected in two Lavender Top (EDTA) tubes.
Timing on request
KSh 57,330
Nx Gen Sequencing Retinitis Pigmentosa Test
First-line screen
10 mL (5 mL minimum) of whole blood collected in 2 Lavender Top (EDTA) tubes.
45 Working DaysApproximately 45 working days.
KSh 40,000
Ophthalmology Eyes Vision Panel Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of blood on FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
Best1 Gene Bestrophinopathy 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
CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy 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
FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability 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
RLBP1 Gene Bothnia Retinal Dystrophy Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
Aco2 Gene Cerebellarretinal Degeneration Infantile 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
PDE6C Gene Cone-Rod Dystrophy Type 4 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
RIMS1 Gene Cone-Rod Dystrophy Type 7 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
EFEMP1 Gene Doyne Honeycob Retinal Dystrophy Genetic Test
First-line screen
Blood sample, extracted DNA, or one drop of blood on an FTA Card.
Timing on request
KSh 40,000
FZD4 Gene Exudative Vitreoretinopathy Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
NDP Gene Exudative Vitreoretinopathy Type 2 Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of blood on an FTA Card.
Timing on request
KSh 40,000
TSPAN12 Gene Exudative Vitreoretinopathy Type 5 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
RB1 Gene Hereditary Retinoblastoma Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
FLVCR1 Gene Ataxia Posterior Column with Retinitis Pigmentosa 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.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
CDH3 Gene Ectodermal Dysplasia Ectrodactyly and Macular Dystrophy 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
BBS7 Gene Bardet-Biedl Syndrome Type 7 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
INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
TUBGCP6 Gene Microcephaly and Chorioretinopathy with or without Mental Retardation 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
KIF11 Gene Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation MCLMR 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
RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
RB1 Gene Deletion and Duplication Detection Retinoblastoma
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 21,000
Retinal Degeneration Gene Panel
First-line screen
Amniotic fluid, Chorionic villi, or Peripheral blood sample.
Timing on request
KSh 72,000
First-line screen
Nx Gen Sequencing Hereditary Retinoblastoma Test
Sample type
10 mL (5 mL minimum) whole blood collected in two Lavender Top (EDTA) tubes.
Turnaround
Timing on request
Price
KSh 57,330
First-line screen
Nx Gen Sequencing Retinitis Pigmentosa Test
Sample type
10 mL (5 mL minimum) of whole blood collected in 2 Lavender Top (EDTA) tubes.
Turnaround
45 Working DaysApproximately 45 working days.
Price
KSh 40,000
First-line screen
Ophthalmology Eyes Vision Panel Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop of blood on FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
Best1 Gene Bestrophinopathy 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
CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy 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
FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis 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
UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability 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
RLBP1 Gene Bothnia Retinal Dystrophy 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
Aco2 Gene Cerebellarretinal Degeneration Infantile 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
PDE6C Gene Cone-Rod Dystrophy Type 4 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
RIMS1 Gene Cone-Rod Dystrophy Type 7 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
EFEMP1 Gene Doyne Honeycob Retinal Dystrophy Genetic Test
Sample type
Blood sample, extracted DNA, or one drop of blood on an FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
FZD4 Gene Exudative Vitreoretinopathy 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
NDP Gene Exudative Vitreoretinopathy Type 2 Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop of blood on an FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
TSPAN12 Gene Exudative Vitreoretinopathy Type 5 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
RB1 Gene Hereditary Retinoblastoma Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single 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
FLVCR1 Gene Ataxia Posterior Column with Retinitis Pigmentosa 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
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
CDH3 Gene Ectodermal Dysplasia Ectrodactyly and Macular Dystrophy 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
BBS7 Gene Bardet-Biedl Syndrome Type 7 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
INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis Genetic Test
Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
TUBGCP6 Gene Microcephaly and Chorioretinopathy with or without Mental Retardation 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
KIF11 Gene Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation MCLMR 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
RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome Genetic Test
Sample type
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
RB1 Gene Deletion and Duplication Detection Retinoblastoma
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 21,000
First-line screen
Retinal Degeneration Gene Panel
Sample type
Amniotic fluid, Chorionic villi, or Peripheral blood sample.
Turnaround
Timing on request
Price
KSh 72,000
Clinical context
Clinical testing guide & how to choose
Tests in Retinitis Pigmentosa & Retinal Dystrophy 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 Retinitis Pigmentosa & Retinal Dystrophy?+
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.