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The list below shows molecular tests that can be used to confirm a clinical-radiographic diagnosis. Please note that we will need to review the clinical and radiographic material before accepting a sample for analysis.
For the availability of other tests or for further information, please contact Dr. Sheila Unger or Dr. Ekkehart Lausch (see page "Our Team - Contact")
| Disorder | Gene test | Contact | |
|---|---|---|---|
Achondroplasia Thanatophoric Dysplasia | FGFR3 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Achondrogenesis type 2 | COL2A1 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Diastrophic Dysplasia | DTDST | Dr. Luisa Bonafé, Lausanne Dr. Ekkehart Lausch | luisa.bonafe (at) chuv.ch ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Metaphyseal Dysplasia Schmid | COL10A1 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Grebe dysplasia | CDMP1 (GDF5) | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Acromesomelic Dysplasia, Maroteaux type (AMDM) | NPR2 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Cartilage-Hair Hypoplasia | RMRP | Kerstin Reicherter | kerstin.reicherter (at) uniklinik-freiburg.de Phone +49-761-270-4513 (lab) |
Pseudoachondroplasia Multiple Epipheal Dysplasia | COMP | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Spondylocostal Dysplasia type 1 | Dll3 | Dr. Luisa Bonafé, Lausanne | luisa.bonafe (at) chuv.ch Phone +41-21-314-3483 |
Spondylocostal Dysplasia type 2 | MESP2 | Dr. Luisa Bonafé, Lausanne | luisa.bonafe (at) chuv.ch Phone +41-21-314-3483 |
Progressive Pseudorheumatoid Dysplasia | WISP3 | Dr. Luisa Bonafé Lausanne | luisa.bonafe (at) chuv.ch Phone +41-21-314-3483 |
Osteogenesis Imperfecta (various types, I - IV) | COL1A1 COL1A2 | Prof. Geert Mortier, Gent | geert.mortier (at) UGent.be |
Campomelic Dysplasia | SOX9 | Prof. Gerd Scherer | gerd.scherer (at) uniklinik-freiburg.de |
Multiple Synostoses Syndrome 1 | NOG | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Nail-Patella-Syndrome | LMX1B | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Chondrodysplasia Punctata (CDPX1) | ARSE | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Apert Syndrome | FGFR2 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |
Dominant Brachyolmia Spondylometaphyseal Dysplasia Kozlowski Metatropic Dysplasia | TRPV4 | Dr. Ekkehart Lausch | ekkehart.lausch (at) uniklinik-freiburg.de Phone +49-761-270-4391 (office), -4513 (lab) |