Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 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
GRN Gene Ceroid Lipofuscinosis Neuronal Type 11 Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 Genetic Test
First-line screen
A blood sample (usually collected in an EDTA tube) or extracted DNA.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
SLC52A2 Gene Brown-Vialetto-Van Laere Syndrome Type 2 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
SCO1 Gene Hepatic Failure Early Onset and Neurologic Disorder 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
LHCGR Gene Leydig Cell Hypoplasia Type 1 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
Dysmorphology Panel 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
TP63 Gene Adult Syndrome Split Hand-Foot Malformation Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
HOXA1 Gene Athabaskan Brainstem Dysgenesis 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
Hoxd13 Gene Brachydactyly-Syndactyly Syndrome Genetic Test
First-line screen
A blood sample (typically 5ml) is required. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
Bdnf Gene Central Hypoventilation Syndrome Congenital 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
ECE1 Gene Central Hypoventilation Syndrome Congenital 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
EDN3 Gene Central Hypoventilation Syndrome Congenital Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
GDNF Gene Central Hypoventilation Syndrome Congenital 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
GFRA1 Gene Central Hypoventilation Syndrome Congenital Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA card.
4 Weeks3 to 4 Weeks.
KSh 40,000
PHOX2A Gene Central Hypoventilation Syndrome Congenital 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. Confirm the current turnaround time with the laboratory before booking.
KSh 40,000
ZEB2 Gene Central Hypoventilation Syndrome Congenital 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
LAMC3 Gene Cortical Malformations Occipital 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
LAMC1 Gene Dandy-Walker Malformation and Occipital Cephaloceles LAMC1 Related Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
4 WeeksTypically 3 to 4 weeks.
KSh 40,000
WNT7A Gene Fibular Aplasia or Hypoplasia Femoral Bowing and Poly Syn and Oligodactyly 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.
KSh 40,000
FLVCR2 Gene Hydranencephaly Fowler Type 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
Lefty2 Gene Leftright Axis Malformations Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or dried blood spot on FTA card.
Timing on request
KSh 40,000
NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism Genetic Test
First-line screen
A blood sample is typically required. Confirm specific sample requirements with the laboratory before collection.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
COL4A1 Gene Porencephaly Familial Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of blood on FTA Card.
Timing on request
KSh 40,000
EMX2 Gene Schizencephaly 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
WNT10B Gene Split-Hand/Foot Malformation Type 6 Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
TANC2 Gene TANC2 Related Brain Disorders 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
FAM58A Gene Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
Common Neurological Neuromuscular Diseases Gene Panel
First-line screen
Amniotic fluid, Chorionic villi, or Peripheral blood.
Timing on request
KSh 72,000
First-line screen
CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 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
GRN Gene Ceroid Lipofuscinosis Neuronal Type 11 Genetic Test
Sample type
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 Genetic Test
Sample type
A blood sample (usually collected in an EDTA tube) or extracted DNA.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
SLC52A2 Gene Brown-Vialetto-Van Laere Syndrome Type 2 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
SCO1 Gene Hepatic Failure Early Onset and Neurologic Disorder 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
LHCGR Gene Leydig Cell Hypoplasia Type 1 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
Dysmorphology Panel 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
TP63 Gene Adult Syndrome Split Hand-Foot Malformation Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. 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
HOXA1 Gene Athabaskan Brainstem Dysgenesis 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
Hoxd13 Gene Brachydactyly-Syndactyly Syndrome Genetic Test
Sample type
A blood sample (typically 5ml) is required. Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Bdnf Gene Central Hypoventilation Syndrome Congenital 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
ECE1 Gene Central Hypoventilation Syndrome Congenital 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
EDN3 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Sample type
Blood sample (usually collected in an 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
GDNF Gene Central Hypoventilation Syndrome Congenital 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
GFRA1 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 Weeks3 to 4 Weeks.
Price
KSh 40,000
First-line screen
PHOX2A Gene Central Hypoventilation Syndrome Congenital 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. Confirm the current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
ZEB2 Gene Central Hypoventilation Syndrome Congenital 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
LAMC3 Gene Cortical Malformations Occipital 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
LAMC1 Gene Dandy-Walker Malformation and Occipital Cephaloceles LAMC1 Related Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 WeeksTypically 3 to 4 weeks.
Price
KSh 40,000
First-line screen
WNT7A Gene Fibular Aplasia or Hypoplasia Femoral Bowing and Poly Syn and Oligodactyly 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.
Price
KSh 40,000
First-line screen
FLVCR2 Gene Hydranencephaly Fowler Type 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
Lefty2 Gene Leftright Axis Malformations Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot on FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism Genetic Test
Sample type
A blood sample is typically required. Confirm specific sample requirements with the laboratory before collection.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
COL4A1 Gene Porencephaly Familial Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop of blood on FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
EMX2 Gene Schizencephaly 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
WNT10B Gene Split-Hand/Foot Malformation Type 6 Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
TANC2 Gene TANC2 Related Brain Disorders 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
FAM58A Gene Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
Common Neurological Neuromuscular Diseases Gene Panel
Sample type
Amniotic fluid, Chorionic villi, or Peripheral blood.
Turnaround
Timing on request
Price
KSh 72,000
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.