Canavan Disease Test
- Sample type
- 10 mL (5 mL minimum) aliquot of random urine in a sterile screw-capped container. Do not use preservatives.
- Turnaround
- Timing on request
- Price
- KSh 9,000
Compare available tests
Neurodevelopmental & Brain Malformation Syndromes
Holoprosencephaly/Cerebellar/Joubert Panels
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
98 tests
Chromosomal Microarray CMA 750K High Resolution Test
- Sample type
- A blood sample is required for this test. Confirm with the laboratory before booking.
- Turnaround
- 15 Days Results are typically available within 15 days.
- Price
- KSh 36,000
Chromosome Xon Microarray High Resolution Test
- Sample type
- 4 mL (minimum 2 mL) of whole blood collected in a lavender top (EDTA) tube.
- Turnaround
- 25 Working Days Approximately 25 working days.
- Price
- KSh 63,180
FISH Microdeletion Detection for Williams Syndrome Test
- Sample type
- 5 mL (3 mL minimum) of whole blood collected in a Green Top (Sodium Heparin) tube.
- Turnaround
- 4 Working Days Results are typically available within 4 working days.
- Price
- KSh 17,000
CNTNAP2 Gene Cortical Dysplasia-Focal Epilepsy Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation 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
SLC1A4 Gene Developmental Delay and Microcephaly SLC1A4 Related Genetic Test
- Sample type
- Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
GNAQ Gene Developmental Delay GNAQ 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
KMT2C Gene Developmental Delay KMT2C Related 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
SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 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
PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 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
Dock7 Gene Early Infantile Epileptic Encephalopathy Type 23 Genetic Test
- Sample type
- A blood sample (typically 3-5 mL) is required. Confirm specific volume and collection tube type with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
ARHGEF9 Gene Early Infantile Epileptic Encephalopathy Type 8 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. 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
GRIN2A Gene Epilepsy with Neurodevelopmental Defects Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
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
GLRA1 Gene Hyperekplexia Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
GLRB Gene Hyperekplexia 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
SLC6A5 Gene Hyperekplexia Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- See timing details Confirm turnaround time with the laboratory before booking.
- Price
- KSh 40,000
ARHGEF9 Gene Hyperekplexia EIEE8 Related Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TCTN1 Gene Joubert Syndrome Type 13 Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- See timing details Confirm turnaround time with the laboratory before booking.
- Price
- KSh 40,000
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
KDM6A Gene Kabuki 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
DCX Gene Lissencephaly Subcortical Laminal Heteropia X-Linked 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
ZCCHC12 Gene Mental Retardation Nonsyndromic 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
ARID1B Gene Mental Retardation Autosomal Dominant Type 12 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
KPTN Gene Mental Retardation Autosomal Recessive Type 41 Genetic Test
- Sample type
- A blood sample (usually collected in an EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
UBE2A Gene Mental Retardation X-Linked Syndromic Nascimento-Type Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
ZDHHC9 Gene Mental Retardation X-Linked Syndromic Raymond Type Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
- Turnaround
- See timing details Confirm turnaround time with the laboratory before booking.
- Price
- KSh 40,000
HUWE1 Gene Mental Retardation X-Linked Syndromic Turner 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
PAK3 Gene Mental Retardation X-Linked Type 30 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). 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
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.