Skip to main content

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

All diagnostic topics
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 Weeks Approximately 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 Weeks Results 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 Weeks Results 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 Weeks Approximately 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 Weeks Approximately 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 Weeks Approximately 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 Weeks Results 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 Weeks Approximately 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 Weeks Approximately 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 details Confirm 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 Weeks 3 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 Weeks Results 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 Weeks Typically 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 Weeks Approximately 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 Weeks Results 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 Weeks Approximately 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 Weeks Approximately 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.

Quick factsheet

Sample
Preparation
Turnaround