Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
ATP1A2 Gene Familial Hemiplegic Migraine Type 2 Genetic Test
First-line screen
A blood sample is required for this test. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
Med12 Gene Fg Syndrome Type 1 Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
4 Weeks3 to 4 weeks.
KSh 40,000
FLNA Gene FG Syndrome Type 2 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
CASK Gene FG Syndrome Type 4 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
FLNA Gene Frontometaphyseal Dysplasia 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
SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
RNF216 Gene Gordon Holmes 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
RAB27A Gene Griscelli Syndrome Type 2 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
RNF39 Gene Hippocampal Longterm Potentiation RFN39 Related Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
Dkc1 Gene Hoyeraal-Hreidarsson Syndrome 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
KIF1A Gene HSN2C Genetic Test
First-line screen
Blood sample or extracted DNA.
Timing on request
KSh 40,000
Ccdc88c Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1 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
MPDZ Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 2 Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
SCN4A Gene Hyperkalemic Periodic Paralysis Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
CACNA1S Gene Hypokalemic Periodic Paralysis 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
DARS Gene Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube) or extracted DNA.
Timing on request
KSh 40,000
PLA2G6 Gene Infantile Neuroaxonal Dystrophy 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
SCN9A Gene Insensitivity to Pain Channelopathy-Associated Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. 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
TIMM8A Gene Jensen Syndrome Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
FAM111A Gene Kenny-Caffey Syndrome Type 2 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
Rogdi Gene Kohlschutter Tonz Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA.
4 WeeksThe source indicates a typical turnaround time of 3 to 4 weeks.
KSh 40,000
HPRT1 Gene Lesch-Nyham Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. A dried blood spot on an FTA card may also be acceptable. Confirm with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
RNASET2 Gene Leukoencephalopathy Cystic Without Megalencephaly 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
CSF1R Gene Leukoencephalopathy Diffuse Hereditary with Spheroids Genetic Test
First-line screen
A blood sample is typically required for this test. Confirm specific sample type and volume requirements with the laboratory before collection.
Timing on request
KSh 40,000
AARS2 Gene Leukoencephalopathy Progressive with Ovarian Failure Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
XBP1 Gene Major Affective Disorder 7 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
Piezo2 Gene MardenWalker Syndrome 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
L1CAM Gene MASA Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
MLC1 Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
Hepacam Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card.
Timing on request
KSh 40,000
First-line screen
ATP1A2 Gene Familial Hemiplegic Migraine Type 2 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
Med12 Gene Fg Syndrome Type 1 Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
FLNA Gene FG Syndrome Type 2 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
CASK Gene FG Syndrome Type 4 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
FLNA Gene Frontometaphyseal Dysplasia 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
SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
RNF216 Gene Gordon Holmes 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
RAB27A Gene Griscelli Syndrome Type 2 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
RNF39 Gene Hippocampal Longterm Potentiation RFN39 Related 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
Dkc1 Gene Hoyeraal-Hreidarsson Syndrome 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
KIF1A Gene HSN2C Genetic Test
Sample type
Blood sample or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Ccdc88c Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1 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
MPDZ Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 2 Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
SCN4A Gene Hyperkalemic Periodic Paralysis Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
CACNA1S Gene Hypokalemic Periodic Paralysis 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
DARS Gene Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity Genetic Test
Sample type
Blood sample (typically collected in an EDTA tube) or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
PLA2G6 Gene Infantile Neuroaxonal Dystrophy 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
SCN9A Gene Insensitivity to Pain Channelopathy-Associated Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. 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
TIMM8A Gene Jensen Syndrome Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
FAM111A Gene Kenny-Caffey Syndrome Type 2 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
Rogdi Gene Kohlschutter Tonz Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA.
Turnaround
4 WeeksThe source indicates a typical turnaround time of 3 to 4 weeks.
Price
KSh 40,000
First-line screen
HPRT1 Gene Lesch-Nyham Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. A dried blood spot on an FTA card may also be acceptable. Confirm with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
RNASET2 Gene Leukoencephalopathy Cystic Without Megalencephaly 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
CSF1R Gene Leukoencephalopathy Diffuse Hereditary with Spheroids Genetic Test
Sample type
A blood sample is typically required for this test. Confirm specific sample type and volume requirements with the laboratory before collection.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
AARS2 Gene Leukoencephalopathy Progressive with Ovarian Failure 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
XBP1 Gene Major Affective Disorder 7 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
Piezo2 Gene MardenWalker Syndrome 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
L1CAM Gene MASA Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
MLC1 Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
Hepacam Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A 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
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.