Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly 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
FGFR3 Gene Achondroplasia 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
PDE4D Gene Acrodysostosis 2 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
SF3B4 Gene Acrofacial Dysostosis 1 Nager Type Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
EBP Gene Chondrodysplasia Punctata X-Linked Dominant Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
ARSE Gene Chondrodysplasia Punctata X-Linked Recessive Genetic Test
First-line screen
A blood sample (typically 5-10ml) in an EDTA tube. Confirm specific volume and tube type with the laboratory before booking.
Timing on request
KSh 40,000
FGFR3 Gene Crouzon Syndrome with Acanthosis Nigricans Genetic Test
First-line screen
A blood sample is typically required for this test. Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
LBR Gene Greenberg Skeletal Dysplasia 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
FGFR3 Gene Hypochondroplasia 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
COL10A1 Gene Metaphyseal Chondrodysplasia Schmid Type Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. 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
COL2A1 Gene Osteoarthritis With Mild Chondrodysplasia Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop Blood on FTA Card.
4 Weeks3 to 4 Weeks.
KSh 40,000
COMP Gene Pseudoachondroplasia 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
CTSK Gene Pycnodysostosis 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
DLL3 Gene Spondylocostal Dysostosis Autosomal Recessive Type 1 Genetic Test
First-line screen
A blood sample (usually 5-10ml) or saliva sample is required. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
MESP2 Gene Spondylocostal Dysostosis Autosomal Recessive Type 2 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
LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 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
ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation 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
CHST3 Gene Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 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
DDR2 Gene Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 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
RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis 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
TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis 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
PRKAR1A Gene Acrodysostosis Type 1 With or Without Hormone Resistance 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.
KSh 40,000
ZSWIM6 Gene Acromelic Frontonasal Dysostosis Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
SOX9 Gene Campomelic Dysplasia 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
IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia 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
IMPAD1 Gene Chondrodysplasia with Joint Dislocations GPAPP Type Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
PTH1R Gene Chondrodysplasia Blomstrand Type Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies 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
COL2A1 Gene Kniest Dysplasia Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific collection 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
First-line screen
IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss and Skeletal Dysplasia 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
EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly 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
FGFR3 Gene Achondroplasia 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
PDE4D Gene Acrodysostosis 2 Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
SF3B4 Gene Acrofacial Dysostosis 1 Nager Type Genetic Test
Sample type
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
EBP Gene Chondrodysplasia Punctata X-Linked Dominant 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
ARSE Gene Chondrodysplasia Punctata X-Linked Recessive Genetic Test
Sample type
A blood sample (typically 5-10ml) in an EDTA tube. Confirm specific volume and tube type with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
FGFR3 Gene Crouzon Syndrome with Acanthosis Nigricans Genetic Test
Sample type
A blood sample is typically required for this test. Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
LBR Gene Greenberg Skeletal Dysplasia 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
FGFR3 Gene Hypochondroplasia 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
COL10A1 Gene Metaphyseal Chondrodysplasia Schmid Type Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. 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
COL2A1 Gene Osteoarthritis With Mild Chondrodysplasia Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop Blood on FTA Card.
Turnaround
4 Weeks3 to 4 Weeks.
Price
KSh 40,000
First-line screen
COMP Gene Pseudoachondroplasia 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
CTSK Gene Pycnodysostosis 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
DLL3 Gene Spondylocostal Dysostosis Autosomal Recessive Type 1 Genetic Test
Sample type
A blood sample (usually 5-10ml) or saliva sample is required. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
MESP2 Gene Spondylocostal Dysostosis Autosomal Recessive Type 2 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
LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 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
ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation 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
CHST3 Gene Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 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
DDR2 Gene Spondylometaepiphyseal Dysplasia Short Limb-Hand 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
First-line screen
RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis 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
TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis 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
PRKAR1A Gene Acrodysostosis Type 1 With or Without Hormone Resistance 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.
Price
KSh 40,000
First-line screen
ZSWIM6 Gene Acromelic Frontonasal Dysostosis Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
SOX9 Gene Campomelic Dysplasia 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
IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia 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
IMPAD1 Gene Chondrodysplasia with Joint Dislocations GPAPP Type 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
PTH1R Gene Chondrodysplasia Blomstrand Type 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
BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies 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
COL2A1 Gene Kniest Dysplasia Genetic Test
Sample type
A blood sample is required for this test. Confirm specific collection 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
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.
Book a genetic test
A counselor will help confirm the right next step.
