Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital Genetic Test
First-line screen
A blood sample is required for this test. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
Amacr Gene Bile Acid Synthesis Defect Type 4 Congenital Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One Drop Blood on FTA Card.
Timing on request
KSh 40,000
ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital Genetic Test
First-line screen
A blood sample is required for this test.
4 Weeks3 to 4 Weeks.
KSh 40,000
BLM Gene Bloom Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
BCKDK Gene Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or blood spot on FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
COMT Gene Catecholomethyltransferase Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test
First-line screen
A blood sample (typically 5-10ml) collected in an EDTA tube.
Timing on request
KSh 40,000
MTRNR2 Gene Chloramphenicol Resistance MTRNR2 Related Genetic Test
First-line screen
Blood sample, Extracted DNA, or one drop of blood on an FTA card.
Timing on request
KSh 40,000
SAR1B Gene Chylomicron Retention Disease Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Timing on request
KSh 40,000
SLC25A13 Gene Citrin Deficiency Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of blood on an FTA card.
Timing on request
KSh 40,000
CTH Gene Cystathioninuria Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksResults typically take 3 to 4 weeks. Confirm current turnaround time with the laboratory before booking.
KSh 40,000
DPYD Gene Dihydropyrimidine Dehydrogenase Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
DPYS Gene Dihydropyrimidinuria Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
DMGDH Gene Dimethylglycine Dehydrogenase Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
4 Weeks3 to 4 weeks.
KSh 40,000
DYM Gene Dyggve-Melchior-Clausen Disease Genetic Test
First-line screen
A blood sample is required for this test. Confirm with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
TMPRSS15 Gene Enterokinase Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
F13B Gene Factor XIIIB Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
SLC2A2 Gene Fanconi-Bickel Syndrome Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
SLC2A5 Gene Fructose Uptake Deficiency SLC2A5 Related Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
KHK Gene Fructosuria Essential Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
FH Gene Fumarase Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
MC2R Gene Glucocorticoid Deficiency Type 1 Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of blood on an FTA card.
4 Weeks3 to 4 weeks.
KSh 40,000
MRAP Gene Glucocorticoid Deficiency Type 2 Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
NNT Gene Glucocorticoid Deficiency Type 4 with or Without Mineralocorticoid Deficiency Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Timing on request
KSh 40,000
FTCD Gene Glutamate Formiminotransferase Deficiency Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Timing on request
KSh 40,000
First-line screen
HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital 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
CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital 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
Amacr Gene Bile Acid Synthesis Defect Type 4 Congenital 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
ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital Genetic Test
Sample type
A blood sample is required for this test.
Turnaround
4 Weeks3 to 4 Weeks.
Price
KSh 40,000
First-line screen
BLM Gene Bloom Syndrome 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
BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
BCKDK Gene Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or blood spot on FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
COMT Gene Catecholomethyltransferase Deficiency Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test
Sample type
A blood sample (typically 5-10ml) collected in an EDTA tube.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
MTRNR2 Gene Chloramphenicol Resistance MTRNR2 Related 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
SAR1B Gene Chylomicron Retention Disease 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
SLC25A13 Gene Citrin 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
CTH Gene Cystathioninuria Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults typically take 3 to 4 weeks. Confirm current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
DPYD Gene Dihydropyrimidine Dehydrogenase Deficiency Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
DPYS Gene Dihydropyrimidinuria Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
DMGDH Gene Dimethylglycine Dehydrogenase Deficiency Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
DYM Gene Dyggve-Melchior-Clausen Disease Genetic Test
Sample type
A blood sample is required for this test. Confirm with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
TMPRSS15 Gene Enterokinase Deficiency Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
F13B Gene Factor XIIIB Deficiency Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
SLC2A2 Gene Fanconi-Bickel Syndrome 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
SLC2A5 Gene Fructose Uptake Deficiency SLC2A5 Related Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
KHK Gene Fructosuria Essential Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
FH Gene Fumarase Deficiency Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
MC2R Gene Glucocorticoid Deficiency Type 1 Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
MRAP Gene Glucocorticoid Deficiency 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
NNT Gene Glucocorticoid Deficiency Type 4 with or Without Mineralocorticoid Deficiency 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
FTCD Gene Glutamate Formiminotransferase Deficiency 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
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.
Book a genetic test
A counselor will help confirm the right next step.
