Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
GFER Gene Myopathy Mitochondrial Progressive with Congenital Cataract Hearing Loss and Developmental Delay Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific volume and collection requirements with the laboratory before booking.
Timing on request
KSh 40,000
Brat1 Gene Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures 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
ADAM22 Gene Neurodevelopmental Disorder ADAM22 Related Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
APC2 Gene Neurodevelopmental Disorder APC2-related 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
CNTNAP4 Gene Neurodevelopmental Disorder CNTNAP4 Related Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA.
4 WeeksTypically 3 to 4 weeks.
KSh 40,000
CROCC Gene Neurodevelopmental Disorder CROCC Related Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
4 Weeks3 to 4 weeks.
KSh 40,000
FRMPD4 Gene Neurodevelopmental Disorder FRMPD4 Related 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
KCTD3 Gene Neurodevelopmental Disorder KCTD3 Related Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
MACF1 Gene Neurodevelopmental Disorder MACF1 Related 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
MTOR Gene Neurodevelopmental Disorder MTOR Related 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
NGEF Gene Neurodevelopmental Disorder NGEF Related 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
PIGQ Gene Neurodevelopmental Disorder PIGQ Related 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
TUBB Gene Neurodevelopmental Disorder TUBB Related 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
ZNF311 Gene Neurodevelopmental Disorder ZNF311 Related 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
KIF2A Gene Neurodevelopmental Malformation and Microcephaly 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
KIF5C Gene Neurodevelopmental Malformation and Microcephaly 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
TUBG1 Gene Neurodevelopmental Malformation and Microcephaly Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
MMUT Gene Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency 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
TRNT1 Gene Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers and Developmental Delay 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
Noonan RASophathies Panel Genetic Test
First-line screen
A blood sample (typically 5-10ml) is required. Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
Disp1 Gene Craniofacial and Neurodevelopmental Abnormalities 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
JAG2 Gene Craniofacial and Neurodevelopmental Abnormalities JAG2 Related 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
FRAS1 Gene Fraser 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
FREM2 Gene Fraser Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
GRIP1 Gene Fraser Syndrome 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
FTO Gene Growth Retardation Developmental Delay Facial Dysmorphism Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an 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
CDON Gene Holoprosencephaly Type 11 Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA.
Timing on request
KSh 40,000
SIX3 Gene Holoprosencephaly 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
SHH Gene Holoprosencephaly Type 3 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
TGIF1 Gene Holoprosencephaly Type 4 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
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
Brat1 Gene Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures 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
ADAM22 Gene Neurodevelopmental Disorder ADAM22 Related Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
APC2 Gene Neurodevelopmental Disorder APC2-related 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
CNTNAP4 Gene Neurodevelopmental Disorder CNTNAP4 Related Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA.
Turnaround
4 WeeksTypically 3 to 4 weeks.
Price
KSh 40,000
First-line screen
CROCC Gene Neurodevelopmental Disorder CROCC Related Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
FRMPD4 Gene Neurodevelopmental Disorder FRMPD4 Related 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
KCTD3 Gene Neurodevelopmental Disorder KCTD3 Related 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
MACF1 Gene Neurodevelopmental Disorder MACF1 Related 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
MTOR Gene Neurodevelopmental Disorder MTOR Related 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
NGEF Gene Neurodevelopmental Disorder NGEF Related 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
PIGQ Gene Neurodevelopmental Disorder PIGQ Related 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
TUBB Gene Neurodevelopmental Disorder TUBB Related 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
ZNF311 Gene Neurodevelopmental Disorder ZNF311 Related 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
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
KIF5C Gene Neurodevelopmental Malformation and Microcephaly 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
TUBG1 Gene Neurodevelopmental Malformation and Microcephaly Genetic Test
Sample type
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
MMUT Gene Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency 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
TRNT1 Gene Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers and Developmental Delay 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
Noonan RASophathies Panel Genetic Test
Sample type
A blood sample (typically 5-10ml) is required. 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
Disp1 Gene Craniofacial and Neurodevelopmental Abnormalities 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
JAG2 Gene Craniofacial and Neurodevelopmental Abnormalities JAG2 Related 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
FRAS1 Gene Fraser 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
FREM2 Gene Fraser Syndrome Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
GRIP1 Gene Fraser Syndrome 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
FTO Gene Growth Retardation Developmental Delay Facial Dysmorphism Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an 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
CDON Gene Holoprosencephaly Type 11 Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
SIX3 Gene Holoprosencephaly 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
SHH Gene Holoprosencephaly Type 3 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
TGIF1 Gene Holoprosencephaly Type 4 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
Clinical context
Clinical testing guide & how to choose
Tests in Neurodevelopmental & Brain Malformation 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 Neurodevelopmental & Brain Malformation 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.
