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Compare available tests

Amino Acid & Organic Acid Disorders

PKU/MSUD/Methylmalonic Acidemia 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

102 tests

All diagnostic topics
First-line screen

TYK2 Gene Tyrosine Kinase 2 Deficiency 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

FAH Gene Tyrosinemia Type 1 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

GSTZ1 Gene Tyrosinemia Type 1B 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

TAT Gene Tyrosinemia Type 2 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
Timing on request
Price
KSh 40,000
First-line screen

HPD Gene Tyrosinemia Type 3 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

MTHFR Gene Homocystinuria Genetic Test

Sample type
Blood sample, 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

CBS Gene Homocystinuria Due To Cystathionine Betasynthase Deficiency Genetic Test

Sample type
Blood sample (EDTA tube) or extracted DNA. A single drop of blood on an FTA card may also be acceptable. Confirm with the laboratory before booking.
Turnaround
4 Weeks 3 to 4 weeks.
Price
KSh 40,000
First-line screen

MTRR Gene Homocystinuria-Megaloblastic Anemia Cbl E Type 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

MTRR Gene Spina Bifida Folate Sensitive Genetic Test

Sample type
Blood sample, 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

Methylenetetrahydrofolate Reductase MTHFR 2 Variants C677T A1298C

Sample type
Peripheral blood collected in an EDTA Vacutainer tube (2ml).
Turnaround
3–4 Days Results are typically available within 3-4 days.
Price
KSh 12,000
First-line screen

Methylenetetrahydrofolate Reductase MTHFR Factor V F5 Factor II F2

Sample type
Peripheral blood sample collected in an EDTA Vacutainer tube (2ml).
Turnaround
Timing on request
Price
KSh 24,000
First-line screen

Alpha Amino Adipic Aciduria Test

Sample type
Urine sample. Confirm specific collection requirements with the laboratory before booking.
Turnaround
2 Weeks Approximately 2 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 20,000

Clinical context

Clinical testing guide & how to choose

Tests in Amino Acid & Organic Acid Disorders 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 Amino Acid & Organic Acid Disorders?

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