List of diseases covered by
Skeletal Ciliopathies NGS panel
| Gene | Condition |
| CEP120 | Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly |
| COMP | Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1 |
| CSPP1 | Joubert syndrome 21 |
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly |
| DYNC2LI1 | Short-rib thoracic dysplasia 15 with polydactyly |
| EVC | Ellis-van Creveld syndrome; Weyers acrofacial dysostosis |
| EVC2 | Ellis-van Creveld syndrome; Weyers acrofacial dysostosis |
| FGFR3 | CATSHL syndrome; Achondroplasia; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia; LADD syndrome; Muenke syndrome; SADDAN; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II |
| IFT43 | Short-rib thoracic dysplasia 18 with polydactyly; Cranioectodermal dysplasia 3 |
| IFT122 | Cranioectodermal dysplasia 1 |
| IFT52 | Short-rib thoracic dysplasia 16 with or without polydactyly |
| IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly |
| IFT140 | Short-rib thoracic dysplasia 9 with or without polydactyly |
| IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly |
| KIAA0586 | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly |
| NEK1 | Short-rib thoracic dysplasia 6 with or without polydactyly |
| TCTEX1D2 | Short-rib thoracic dysplasia 17 with or without polydactyly |
| TCTN3 | Joubert syndrome 18; Orofaciodigital syndrome IV |
| TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12 |
| WDR19 | Senior-Loken syndrome 8; Nephronophthisis 13; Short-rib thoracic dysplasia 5 with or without polydactyly; Cranioectodermal dysplasia 4 |
| WDR34 | Short-rib thoracic dysplasia 11 with or without polydactyly |
| WDR35 | Short-rib thoracic dysplasia 7 with or without polydactyly; Cranioectodermal dysplasia 2 |
| WDR60 | Short-rib thoracic dysplasia 8 with or without polydactyly |