TSEN54 Gene Pontocerebellar Hypoplasia 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
Compare available tests
Other Rare Neurogenetic Syndromes
Comprehensive Neurogene Sequencing
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
181 tests
TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test
- Sample type
- A blood sample (typically 5-10ml) in an EDTA tube is required. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
RARS2 Gene Pontocerebellar Hypoplasia Type 6 Genetic Test
- Sample type
- A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks. Confirm the exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
CLP1 Gene Pontocerebellar Hypoplasia Type 10 Genetic Test
- Sample type
- Blood sample (EDTA tube) or saliva sample on an FTA card. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
AMPD2 Gene Pontocerebellar Hypoplasia Type 9 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
COL4A2 Gene Porencephaly Type 2 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
ALS2 Gene Primary Lateral Sclerosis Juvenile 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
TANC1 Gene Psychomotor Retardation 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
ZFHX4 Gene Ptosis Congenital 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
CLCN4 Gene Raynaud-Claes Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
PQBP1 Gene Renpenning 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
CAV3 Gene Rippling Muscle Disease 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
HSPG2 Gene Schwartz-Jampel Syndrome Type 1 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
TH Gene Segawa Syndrome Autosomal Recessive Genetic Test
- Sample type
- Blood sample, Extracted DNA, or One drop of blood on an FTA card.
- Turnaround
- 4 Weeks 3 to 4 Weeks.
- Price
- KSh 40,000
KCNJ10 Gene Sesame Syndrome Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). 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
SLC17A5 Gene Sialuria Finish Type Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 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
ARHGEF10 Gene Slowed Nerve Conduction Velocity Autosomal Dominant 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
ULK2 Gene Smith-Magenis Syndrome ULK2 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
ALS2 Gene Spastic Paralysis Infantile Onset Ascending Genetic Test
- Sample type
- Blood sample (collected in an EDTA tube) or extracted DNA.
- Turnaround
- Timing on request
- Price
- KSh 40,000
AR Gene Spinal and Bulbar Muscular Atrophy Xlinked 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
PDE8B Gene Striatal Degeneration 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
FUS Gene Tremor Essential Type 4 Genetic Test
- Sample type
- Blood sample, Extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks 3 to 4 Weeks.
- Price
- KSh 40,000
DRD3 Gene Tremor Essential Type 1 Hereditary 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
CSTB Gene Unverricht-Lundborg Disease Genetic Test
- Sample type
- Blood sample (typically 5-10ml in an EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
CRB2 Gene Ventriculomegaly with Cystic Kidney Disease 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
RAB3GAP1 Gene Warburg Micro Syndrome Type 1 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
WDR27 Gene WDR27-Related Brain Disorders Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks 3 to 4 weeks.
- Price
- KSh 40,000
ZC4H2 Gene Wieacker-Wolff Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 Genetic Test
- Sample type
- Blood sample (typically collected in an EDTA tube). Confirm 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.