COL11A2 Gene Otospondylomegaepiphyseal Dysplasia 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
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
DIS3L2 Gene Perlman 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
LAMA1 Gene Poretti-Boltshauser 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
WASHC5 Gene Ritscher-Schinzel 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 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
HNRNPU Gene RNA Processing Related Disorders 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
ESCO2 Gene SC Phocomelia Syndrome 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
MAGEL2 Gene Schaaf-Yang 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
SOST Gene Sclerosteosis Type 1 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
ATR Gene Seckel Syndrome Type 1 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks 3 to 4 weeks.
- Price
- KSh 40,000
RBBP8 Gene Seckel Syndrome 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
CEP152 Gene Seckel Syndrome Type 5 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly Genetic Test
- Sample type
- Blood (EDTA tube), Extracted DNA, or Dried blood spot on FTA card.
- Turnaround
- Timing on request
- Price
- KSh 40,000
IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 With or Without Polydactyly Genetic Test
- Sample type
- A blood sample (usually 5-10ml) is required. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
Dync2h1 Gene Short-Rib Thoracic Dysplasia Type 3 With or Without Polydactyly Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
WDR60 Gene Short-Rib Thoracic Dysplasia Type 8 with or without Polydactyly Genetic Test
- Sample type
- Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
- 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
SKI Gene Shprintzen-Goldberg 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
COL2A1 Gene Spondyloperipheral Dysplasia 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
WNT7A Gene Ulna and Fibula Absence with Severe Limb 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
Hoxd13 Gene Vater Association 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. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
AAAS Full Gene Sequence Analysis Allogrove Syndrome
- Sample type
- Peripheral blood (EDTA tube), Amniotic Fluid, Chorionic villi, Cord blood.
- Turnaround
- Timing on request
- Price
- KSh 60,000
Complete Inherited Disease Panel
- Sample type
- Amniotic fluid, chorionic villi, or peripheral blood. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 72,000
Metabolic Disorder Gene Panel
- Sample type
- Amniotic fluid, Chorionic villi, or Peripheral blood.
- Turnaround
- 4–6 Weeks
- Price
- KSh 72,000
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.