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Genomic Sequencing & Technology Services

Exome/Genome/Epigenome Sequencing Services

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

227 tests

All diagnostic topics
First-line screen

SPATA5 Gene Epilepsy Hearing Loss and Mental Retardation Syndrome Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

KCNA1 Gene Episodic Ataxia Type 1 Genetic Test

Sample type
Blood sample (usually collected in an 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 the current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

SCN10A Gene Episodic Pain Syndrome Type 2 Familial 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

KCNMA1 Gene Generalized Epilepsy and Paroxysmal Dyskinesia Genetic Test

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

FLNA Gene Heterotopia Periventricular ED Variant Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or blood spot on FTA card.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Price
KSh 40,000
First-line screen

TMEM216 Gene Joubert Syndrome Type 2 Genetic Test

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

KIAA0586 Gene Joubert Syndrome Type 23 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

NDUFS4 Gene Leigh Syndrome Genetic Test

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

TRIM32 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2H Genetic Test

Sample type
Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.
Turnaround
See timing details Confirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

Ddx3x Gene Mental Retardation Xlinked Type 102 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

STAMBP Gene Microcephaly-Capillary Malformation Syndrome Genetic Test

Sample type
A blood sample is required. Confirm specific volume and collection tube type with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B Genetic Test

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

FKRP Gene Muscular Dystrophy Type 1C Genetic Test

Sample type
Blood sample (usually 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

POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3 Genetic Test

Sample type
Blood sample (EDTA tube)
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

GFER Gene Myopathy Mitochondrial Progressive with Congenital Cataract Hearing Loss and Developmental Delay Genetic Test

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

MTTQ Gene Myopathy MTTQ Related Genetic Test

Sample type
Blood sample (EDTA tube) or extracted DNA. In some cases, a drop of blood on an FTA card may be acceptable. Confirm with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen

MYOT Gene Myotilinopathy 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

KIF2A Gene Neurodevelopmental Malformation and Microcephaly 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

CHMP1A Gene Pontocerebellar Hypoplasia Type 8 Genetic Test

Sample type
A blood sample is required for this test. Confirm with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen

RAI1 Gene Smith-Magenis Syndrome 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

PLP1 Gene SPG2 Genetic Test

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

ATXN10 Gene Spinocerebellar Ataxia Type 10 Autosomal Dominant Genetic Test

Sample type
Blood sample (usually 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. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

Grid2 Gene Spinocerebellar Ataxia Type 18 Autosomal Recessive Genetic Test

Sample type
Blood sample (usually 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

Eef2 Gene Spinocerebellar Ataxia Type 26 Autosomal Dominant 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

UROC1 Gene Urocanase Deficiency 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

DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 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

ACADS Gene Acyl-CoA Short-Chain Dehydrogenase Deficiency Genetic Test

Sample type
Blood sample.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

ASL Gene Argininosuccinic Aciduria 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

MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 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

RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 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

Clinical context

Clinical testing guide & how to choose

Tests in Genomic Sequencing & Technology Services 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 Genomic Sequencing & Technology Services?

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.

Related services

Services in this topic

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12S rRNA Sequencing

Research sequencing of a 12S mitochondrial rRNA region may support species identification for suitable organisms, depending on the assay and reference data.

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16S rRNA Sequencing

Research-oriented sequencing of the bacterial 16S rRNA gene may support taxonomic characterization of a sample; identification depends on assay coverage and reference data.

Service details →

Autosomal STR Fragment Analysis

Autosomal STR fragment analysis examines selected short tandem repeat markers and can support comparison of DNA profiles, including relationship assessment when an appropriate validated method is used.

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RbcL Sequencing

Research sequencing of the plant rbcL marker may support plant taxonomic identification, subject to assay coverage and reference data.

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Quick factsheet

Sample
Preparation
Turnaround