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Compare available tests

Leber Congenital Amaurosis & Cone-Rod Dystrophy

CEP290/RPE65/ABCA4 Gene Panels

Catalog role labels reflect current assignments. Test choice, timing and prices require clinician or laboratory confirmation.

  • KMLTTB Regulated Laboratory
  • ISO 9001:2015 Quality System
  • Free Pre-Test Counselor Guidance
  • Nationwide & Home Sample Collection

Test comparison

30 tests

All diagnostic topics
First-line screen

Immunohistochemistry CD45 LCA Test

Sample type
Tumor tissue in 10% Formal-saline or Formalin fixed paraffin embedded block.
Turnaround
7 Days Typical turnaround times may range from 5 to 7 days depending on the sample type and complexity.
Price
KSh 6,000
First-line screen

Lebers Hereditary Optic Neuropathy LHON Mitochondrial Mutation Detection Test

Sample type
4 mL (2 mL minimum) of whole blood collected in a lavender top (EDTA) tube.
Turnaround
Timing on request
Price
KSh 50,000
First-line screen

Nx Gen Sequencing Leber Congenital Amaurosis Test

Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
45 Working Days Approximately 45 working days.
Price
KSh 57,330
First-line screen

CNGA3 Gene Achromatopsia Type 2 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

CNGB3 Gene Achromatopsia Type 3 Genetic Test

Sample type
A blood sample is required for this test. Please confirm the specific collection requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

GNAT2 Gene Achromatopsia Type 4 Genetic Test

Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

PDE6H Gene Achromatopsia Type 6 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

Cep290 Gene Bardet-Biedl Syndrome Type 14 Genetic Test

Sample type
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

RGS9 Gene Bradyopsia 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

RGS9BP Gene Bradyopsia Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

AIPL1 Gene Cone-Rod 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

UNC119 Gene Cone-Rod 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

RAX2 Gene Cone-Rod Dystrophy Type 11 Genetic Test

Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

PROM1 Gene Cone-Rod Dystrophy Type 12 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

RPGRIP1 Gene Cone-Rod Dystrophy Type 13 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

GUCA1A Gene Cone-Rod Dystrophy Type 14 Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

CDHR1 Gene Cone-Rod Dystrophy Type 15 Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

CD3G Gene Cone-Rod Dystrophy Type 17 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

CRX Gene Cone-Rod Dystrophy Type 2 Genetic Test

Sample type
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen

Poc1B Gene Cone-Rod Dystrophy Type 20 Genetic Test

Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

ABCA4 Gene Cone-Rod Dystrophy Type 3 Genetic Test

Sample type
Blood sample (usually collected via venipuncture) 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 Weeks 3 to 4 Weeks.
Price
KSh 40,000
First-line screen

PITPNM3 Gene Cone-Rod Dystrophy Type 5 Genetic Test

Sample type
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 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

ADAM9 Gene Cone-Rod Dystrophy Type 9 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

C21orf2 Gene Cone-Rod Dystrophy C21orf2 Related Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

CACNA1F Gene Cone-Rod Dystrophy X-Linked Type 3 Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 Weeks 3 to 4 weeks.
Price
KSh 40,000
First-line screen

CEP290 Gene Joubert Syndrome Type 5 Genetic Test

Sample type
A blood sample (typically 5-10ml) in an EDTA tube. Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

CEP290 Gene Meckel Syndrome Type 4 Genetic Test

Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

CEP290 Gene Senior-Loken Syndrome Type 6 Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000

Clinical context

Clinical testing guide & how to choose

Tests in Leber Congenital Amaurosis & Cone-Rod 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 Leber Congenital Amaurosis & Cone-Rod 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.

Quick factsheet

Sample
Preparation
Turnaround