PTDSS1 Gene LenzMajewski Hyperostotic Dwarfism 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
Compare available tests
Skeletal Dysplasias & Dwarfism Genetics
FGFR3/COL2A1/Skeletal Dysplasia 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
50 tests
MMP13 Gene Metaphyseal Anadysplasia Type 1 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
PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
COL2A1 Gene Otospondylomegaepiphyseal Dysplasia 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
COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type 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
DHODH Gene Postaxial Acrofacial Dysostosis 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
GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test
- Sample type
- A blood sample (usually 5-10ml) is required. Confirm specific sample type and volume with the laboratory before collection.
- Turnaround
- Timing on request
- Price
- KSh 40,000
AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 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
ROR2 Gene Robinow Syndrome Autosomal Recessive Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
COL2A1 Gene SED Congenita 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
WDR34 Gene Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly Genetic Test
- Sample type
- Blood sample, Extracted DNA, or One drop of blood on FTA Card.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TTC21B Gene Short-Rib Thoracic Dysplasia Type 4 With or Without Polydactyly 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
WDR19 Gene Short-Rib Thoracic Dysplasia Type 5 With or Without Polydactyly 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
WDR35 Gene Short-rib Thoracic Dysplasia Type 7 with or without Polydactyly Genetic Test
- Sample type
- A blood sample is required for this test. Confirm with the laboratory before booking for specific volume and collection tube requirements.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
NKX32 Gene Spondylomegaepiphysealmetaphyseal Dysplasia 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
TBX6 Gene Spondylocostal Dysostosis 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
Achondroplasia FGFR3 Full Gene Sequence Analysis
- Sample type
- Peripheral blood, amniotic fluid, chorionic villi, or cord blood.
- Turnaround
- Timing on request
- Price
- KSh 60,000
Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C
- Sample type
- Peripheral blood collected in an EDTA Vacutainer tube (2ml).
- Turnaround
- Timing on request
- Price
- KSh 18,000
FGFR3/IgH MM
- Sample type
- Confirm with the laboratory before booking. Typically requires a blood sample or bone marrow sample.
- Turnaround
- 3–4 Days Results are typically available within 3-4 days.
- Price
- KSh 10,500
Clinical context
Clinical testing guide & how to choose
Tests in Skeletal Dysplasias & Dwarfism Genetics 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 Skeletal Dysplasias & Dwarfism Genetics?
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.