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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

GCDH Gene Glutaric Acidemia Type 1 Genetic Test

Sample type
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

ETFDH Gene Glutaric Acidemia Type 2C 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

SUGCT Gene Glutaric Aciduria Type 3 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

QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C 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

PCBD1 Gene Hyperphenylalaninemia BH4 Deficient Type D 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

PTS Gene Hyperphenylalaninemia BH4deficient Type A 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

ALDH4A1 Gene Hyperprolinemia 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

Ivd Gene Isovaleric Acidemia 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

L2HGDH Gene L2-Hydroxyglutaric Aciduria 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

PDHX Gene Lacticacidemia Due To PDX1 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

BCKDHA Gene Maple Syrup Urine Disease Type 1A 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

BCKDHB Gene Maple Syrup Urine Disease Type 1b 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

DBT Gene Maple Syrup Urine Disease Type 2 Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen

DLD Gene Maple Syrup Urine Disease 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

Ppm1k Gene Maple Syrup Urine Disease Mild Variant Genetic Test

Sample type
A blood sample (usually collected in an EDTA tube) or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

ACAT1 Gene Methylacetoacetic Aciduria 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

MMAA Gene Methylmalonic Aciduria CblA Type 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

MMAB Gene Methylmalonic Aciduria CblB Type Genetic Test

Sample type
Blood sample (EDTA tube) or extracted DNA. A dried blood spot on an FTA card may also be acceptable. 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

MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test

Sample type
A blood sample is required for this test. Typically, 3-5 mL of whole blood collected in an EDTA tube (purple top). Confirm specific volume and tube type with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

MMADHC Gene Methylmalonic Aciduria CblD Type Genetic Test

Sample type
Blood sample (EDTA tube), Extracted DNA, or One Drop Blood on FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

LMBRD1 Gene Methylmalonic Aciduria CblF Type Genetic Test

Sample type
Blood sample (typically 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

ABCD4 Gene Methylmalonic Aciduria CblJ Type 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. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

CD320 Gene Methylmalonic Aciduria CblR 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

MMUT Gene Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency 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

MVK Gene Mevalonic Aciduria 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
First-line screen

UMPS Gene Orotic Aciduria 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

PAH Gene Phenylketonuria 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

SLC7A5 Gene Phenylketonuria Modifier SLC7A5 Related 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. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

PCCA Gene Propionic Acidemia 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

PCCB Gene Propionic Acidemia 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

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