Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
WNK4 Gene Pseudohypoaldosteronism Type 2B Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. A drop of blood on an FTA card may also be acceptable. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
CYP19A1 Gene Aromatase Deficiency Genetic Test
First-line screen
Blood sample, extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
FSHB Gene Folliclestimulating Hormone Deficiency Isolated 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
ACTB Gene Baraitser-Winter Syndrome Type 1 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. Confirm the current turnaround time with the laboratory before booking.
KSh 40,000
FLCN Gene BirtHoggDube Syndrome Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
BMP2 Gene Brachydactyly Type A2 Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Timing on request
KSh 40,000
Hoxd13 Gene Brachydactyly Type E1 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
ABCC9 Gene Cantu Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 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
ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
GPSM2 Gene Chudley-McCullough Syndrome 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
ERCC8 Gene Cockayne Syndrome Type A 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
CLMP Gene Congenital Shortbowel Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test
First-line screen
A blood sample (typically 3-5 mL) is required. Confirm specific sample requirements with the laboratory before collection.
Timing on request
KSh 40,000
EVC2 Gene Ellisvan Creveld Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
POLE Gene FILS Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
WDR73 Gene Galloway-Mowat Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Timing on request
KSh 40,000
KAT6B Gene Genitopatellar Syndrome 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
SATB2 Gene Glass Syndrome 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
GLI3 Gene Greig Cephalopolysyndactyly Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksTypically 3 to 4 weeks.
KSh 40,000
ADNP Gene Helsmoortelvan der Aa Syndrome Genetic Test
First-line screen
A blood sample (typically 5-10ml) collected in an EDTA tube.
Timing on request
KSh 40,000
HYLS1 Gene Hydrolethalus Syndrome 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
SALL4 Gene IVIC Syndrome Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
4 Weeks3 to 4 weeks.
KSh 40,000
MEOX1 Gene Klippel-Feil Syndrome Type 2 Autosomal Dominant Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Timing on request
KSh 40,000
MMP9 Gene Metaphyseal Anadyplasia 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
SMAD4 Gene Myhre Syndrome 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
SMARCA2 Gene Nicolaides Baraitser Syndrome Genetic Test
First-line screen
Blood sample (typically 5-10ml in an EDTA tube) or extracted DNA.
Timing on request
KSh 40,000
GJA1 Gene Oculodentodigital Dysplasia Genetic Test
First-line screen
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
NAA10 Gene Ogden Syndrome 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
IRF6 Gene Orofacial Cleft Type 6 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
First-line screen
WNK4 Gene Pseudohypoaldosteronism Type 2B Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. A drop of blood on an FTA card may also be acceptable. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
CYP19A1 Gene Aromatase Deficiency Genetic Test
Sample type
Blood sample, extracted DNA, or one 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
FSHB Gene Folliclestimulating Hormone Deficiency Isolated 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
ACTB Gene Baraitser-Winter Syndrome Type 1 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. Confirm the current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
FLCN Gene BirtHoggDube Syndrome Genetic Test
Sample type
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
BMP2 Gene Brachydactyly Type A2 Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Hoxd13 Gene Brachydactyly Type E1 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
ABCC9 Gene Cantu Syndrome Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 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
ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 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
GPSM2 Gene Chudley-McCullough Syndrome 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
ERCC8 Gene Cockayne Syndrome Type A 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
CLMP Gene Congenital Shortbowel Syndrome 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
CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test
Sample type
A blood sample (typically 3-5 mL) is required. Confirm specific sample requirements with the laboratory before collection.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
EVC2 Gene Ellisvan Creveld Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
POLE Gene FILS Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
WDR73 Gene Galloway-Mowat Syndrome Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
KAT6B Gene Genitopatellar Syndrome 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
SATB2 Gene Glass Syndrome 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
GLI3 Gene Greig Cephalopolysyndactyly Syndrome Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksTypically 3 to 4 weeks.
Price
KSh 40,000
First-line screen
ADNP Gene Helsmoortelvan der Aa 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
HYLS1 Gene Hydrolethalus Syndrome 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
SALL4 Gene IVIC Syndrome Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
MEOX1 Gene Klippel-Feil Syndrome Type 2 Autosomal Dominant Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
MMP9 Gene Metaphyseal Anadyplasia 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
SMAD4 Gene Myhre Syndrome 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
SMARCA2 Gene Nicolaides Baraitser Syndrome Genetic Test
Sample type
Blood sample (typically 5-10ml in an EDTA tube) or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
GJA1 Gene Oculodentodigital Dysplasia Genetic Test
Sample type
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
NAA10 Gene Ogden Syndrome 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
IRF6 Gene Orofacial Cleft Type 6 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
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.
