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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

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 Weeks 3 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 Weeks 3 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 Weeks Approximately 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 Weeks Results 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 Weeks Approximately 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 Weeks Approximately 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 Weeks Approximately 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 Weeks Approximately 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 Weeks Results 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 Weeks Approximately 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 Weeks The 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 Weeks Approximately 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 Weeks Approximately 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.

Quick factsheet

Sample
Preparation
Turnaround