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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

Methylmalonic Acid Quantitative Serum Test

Sample type
Serum sample.
Turnaround
Timing on request
Price
KSh 7,000
First-line screen

Methylmalonic Acid Quantitative Urine Test

Sample type
10 ml (5 ml minimum) first morning urine sample.
Turnaround
See timing details Results for samples submitted by Friday 6 PM are typically available by Saturday.
Price
KSh 7,000
First-line screen

MTHFR Gene Mutation Qualitative PCR Test

Sample type
3 mL (2 mL minimum) of whole blood collected in a Lavender Top (EDTA) tube.
Turnaround
Timing on request
Price
KSh 9,000
First-line screen

Newborn Screening Panel 4 Test

Sample type
One drop of heel prick blood on three spots of filter paper.
Turnaround
See timing details Results are typically available the next day, provided the sample is received by 9 AM Monday to Friday.
Price
KSh 2,340
First-line screen

Newborn Screening Panel 5 Test

Sample type
Dried blood spot sample collected via heel prick.
Turnaround
Timing on request
Price
KSh 2,340
First-line screen

Nx Gen Sequencing Alkaptonuria Test

Sample type
10 mL (5 mL minimum) of whole blood collected in two Lavender Top (EDTA) tubes.
Turnaround
Timing on request
Price
KSh 46,800
First-line screen

Organic Acids Urine Test

Sample type
15 mL (10 mL minimum) random urine sample collected in a sterile, screw-capped container without preservative.
Turnaround
Timing on request
Price
KSh 14,000
First-line screen

Phenylalanine Newborn Screen Test

Sample type
1 drop of heel prick blood on 3 spots of filter paper (available from LPL). Clinical details and drug history must accompany the sample.
Turnaround
See timing details Sample collected Monday through Friday by 9 am; report available the next day.
Price
KSh 585
First-line screen

Venous Thrombosis Risk Analysis Panel Test

Sample type
Two 5 mL (3 mL minimum) whole blood samples collected in Lavender Top (EDTA) tubes.
Turnaround
Timing on request
Price
KSh 15,000
First-line screen

GCH1 Gene Hyperphenylalaninemia BH4deficient B 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

SUCLG1 Gene Mitochondrial DNA Depletion Syndrome Encephalomyopathic Type with Methylmalonic Aciduria Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

DHTKD1 Gene 2-Aminoadipic 2-Oxoadipic Aciduria 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

AUH Gene 3-Methylglutaconic Aciduria Type 1 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

OPA3 Gene 3-Methylglutaconic Aciduria Type 3 Genetic Test

Sample type
Blood sample (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

DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 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

CLPB Gene 3-Methylglutaconic Aciduria Type 7 with Cataracts Neurologic Involvement and Neutropenia 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

Serac1 Gene 3-Methylglutaconic Aciduria with Deafness, Encephalopathy and Leigh-like Syndrome 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

HGD Gene Alkaptonuria 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

ASL Gene Argininosuccinic Aciduria 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

Ddc Gene Aromatic L-Amino Acid Decarboxylase Deficiency Aadc 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

BTD Gene Biotinidase Deficiency 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

BCAT2 Gene Branched-Chain Aminotransferase 2 Deficiency 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

SLC25A1 Gene Combined D2 and L2-Hydroxyglutaric Aciduria 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
First-line screen

ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test

Sample type
Blood sample.
Turnaround
4 Weeks 3 to 4 Weeks.
Price
KSh 40,000
First-line screen

D2HGDH Gene D2hydroxyglutaric Aciduria Type 1 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

IDH2 Gene D2hydroxyglutaric Aciduria 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

GLYCTK Gene D-Glyceric Aciduria 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

GALE Gene Galactose Epimerase Deficiency Genetic Test

Sample type
A blood sample is required for DNA extraction. Confirm specific collection requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

GALT Gene Galactosemia Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot on FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

SLC5A1 Gene Glucose Galactose Malabsorption Genetic Test

Sample type
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

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