Skeletal disorders
Hereditary skeletal disorders are genetically determined conditions that affect the growth and structure of the skeleton. They can lead to short or tall stature, joint contractures, premature ossification of the cranial sutures, or brittle bones, as in osteogenesis imperfecta.
Request Test
- Sample material: EDTA whole blood
- Test method: next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics by PCR)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The table below presents our indication-specific testing services in this area:
| INDICATION | ANALYSIS |
| Achondroplasia | Single-gene analysis (FGFR3) |
| Arthrogryposis | Gene panel |
| Tall stature | Gene panel |
| Hypochondroplasia | Single-gene analysis (FGFR3) |
| Short stature | Gene panel |
| Short stature, SHOX-associated | Single-gene analysis (SHOX) |
| Craniosynostosis | Gene panel |
| Osteogenesis imperfecta | Gene panel |
| Osteoporosis | Gene panel |
| Skeletal dysplasias | Gene panel |
The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, as well as the entries in GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it is a complex syndromic condition, it is possible to request exome sequencing based on phenotypic features.