Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
PAX6 Gene Foveal Hypoplasia Type 1 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.
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
NGSNeuro Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. A single drop of blood on an FTA card may also be acceptable. Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
Neuromuscular Panel 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
KIF7 Gene Acrocallosal 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
DCPS Gene AlRaqad 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
SLC16A2 Gene Allan-Herndon-Dudley Syndrome 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
9Sep Gene Amyotrophy Hereditary Neuralgic Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
PRPS1 Gene Arts 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
NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 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
PHF6 Gene Borjeson-Forssman-Lehmann 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
MAOA Gene Brunner Syndrome Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of Blood on an FTA Card.
Timing on request
KSh 40,000
F5 Gene Budd-Chiari 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
ASPA Gene Canavan Disease 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
ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
PRKCH Gene Cerebral Infarction Susceptibility to Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
GAD1 Gene Cerebral Palsy Type 1 Spastic Quadriplegic Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
KANK1 Gene Cerebral Palsy Type 2 Spastic Quadriplegic 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
CYP27A1 Gene Cerebrotendinous Xanthomatosis Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
NSDHL Gene CHILD 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
VPS13A Gene Choreoacanthocytosis Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
4 WeeksTypically 3 to 4 weeks.
KSh 40,000
RPS6KA3 Gene Coffin-Lowry 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 exact turnaround time with the laboratory before booking.
KSh 40,000
VPS13B Gene Cohen Syndrome 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
SCN2A Gene Convulsions Benign Familial Infantile 3 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
PRRT2 Gene Convulsions Familial Infantile with Paroxysmal Choreoathetosis Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Timing on request
KSh 40,000
TUBB3 Gene Cortical Dysplasia Complex with Other Brain Malformations Type 1 Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific volume and collection tube requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 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
CFL1 Gene Corticobasal Degeneration CFL1 Related Genetic Test
First-line screen
Blood sample (collected in an appropriate tube), Extracted DNA, or One drop of blood on an FTA card.
Timing on request
KSh 40,000
CR1 Gene CR1 Deficiency 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
CAV3 Gene Creatine Phosphokinase Elevated Serum Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
OCRL Gene Dent Disease Type 2 Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
First-line screen
PAX6 Gene Foveal Hypoplasia Type 1 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
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
NGSNeuro Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. A single drop of blood on an FTA card may also be acceptable. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
Neuromuscular Panel 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
KIF7 Gene Acrocallosal 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
DCPS Gene AlRaqad 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
SLC16A2 Gene Allan-Herndon-Dudley Syndrome 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
9Sep Gene Amyotrophy Hereditary Neuralgic Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
PRPS1 Gene Arts 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
NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 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
PHF6 Gene Borjeson-Forssman-Lehmann 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
MAOA Gene Brunner Syndrome 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
F5 Gene Budd-Chiari 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
ASPA Gene Canavan Disease 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
ASCL1 Gene Central Hypoventilation Syndrome Congenital 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
PRKCH Gene Cerebral Infarction Susceptibility to 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
GAD1 Gene Cerebral Palsy Type 1 Spastic Quadriplegic 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
KANK1 Gene Cerebral Palsy Type 2 Spastic Quadriplegic 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
CYP27A1 Gene Cerebrotendinous Xanthomatosis Genetic Test
Sample type
Blood sample (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
NSDHL Gene CHILD 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
VPS13A Gene Choreoacanthocytosis Genetic Test
Sample type
Blood sample (typically 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
RPS6KA3 Gene Coffin-Lowry 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 exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
VPS13B Gene Cohen Syndrome 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
SCN2A Gene Convulsions Benign Familial Infantile 3 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
PRRT2 Gene Convulsions Familial Infantile with Paroxysmal Choreoathetosis 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
TUBB3 Gene Cortical Dysplasia Complex with Other Brain Malformations Type 1 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
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 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
CFL1 Gene Corticobasal Degeneration CFL1 Related Genetic Test
Sample type
Blood sample (collected in an appropriate tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
CR1 Gene CR1 Deficiency 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
CAV3 Gene Creatine Phosphokinase Elevated Serum 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
OCRL Gene Dent Disease Type 2 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
Timing on request
Price
KSh 40,000
Clinical context
Clinical testing guide & how to choose
Tests in Other Rare Neurogenetic Syndromes 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 Rare Neurogenetic Syndromes?+
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.
