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Compare available tests

Other Endocrine & Metabolic Disorders

Rare Endometabolic 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

202 tests

All diagnostic topics
First-line screen

NEU1 Gene Neuraminidase Deficiency 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

DCXR Gene Pentosuria Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
See timing details Confirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency 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

PSAT1 Gene Phosphoserine Aminotransferase Deficiency 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

PSPH Gene Phosphoserine Phosphatase Deficiency 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
4 Weeks Results are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen

PEPD Gene Prolidase 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

PSAP Gene Prosaposin Deficiency 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

SLC52A1 Gene Riboflavin Deficiency 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

AASS Gene Saccharopinuria Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

SARDH Gene Sarcosinemia 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

IDUA Gene Scheie 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

SERHL2 Gene Serine Hydrolase Deficiency SERHL2 Related 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

ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase 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

OXCT1 Gene Succinyl CoA:3-oxoacid CoA Transferase Deficiency Genetic Test

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

SI Gene Sucrase-Isomaltase Deficiency 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

SUMF1 Gene Sulfatase Deficiency 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

SUOX Gene Sulfite Oxidase 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

SFTPD Gene Surfactant Metabolism Dysfunction 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

SFTPB Gene Surfactant Metabolism Dysfunction Type 1 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

SFTPC Gene Surfactant Metabolism Dysfunction Type 2 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

ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 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 exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample. 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

CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 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

ABCA1 Gene Tangier Disease 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

TPK1 Gene Thiamine Metabolism Dysfunction Syndrome 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

HADHA Gene Trifunctional Protein 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

FMO3 Gene Trimethylaminuria 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

ECM1 Gene Urbach-Wiethe Disease 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

G6PC Gene VonGierke Disease 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. Confirm the current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

XDH Gene Xanthinuria 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

Clinical context

Clinical testing guide & how to choose

Tests in Other Endocrine & Metabolic 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 Other Endocrine & Metabolic 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