Diagnostic Materials

The materials listed below are helpful in reaching a diagnosis of a skeletal dysplasia, dysostosis, or genetic syndrome with short stature. Prior to sending, please be sure to obtain informed consent from the proband or his/her guardians in accordance with local regulations.

  • Clinical summary (including the pedigree)
  • Clinical photographs
  • X-rays (good quality hard copies, or JPEGs as email attachments)
  • Histology slides

... These can be submitted directly for diagnostic consultation. All materials remain strictly confidential and is not used or distributed without agreement

- EDTA-blood for DNA isolation (5 to 20 ml depending on planned tests or research)
- extracted genomic DNA
- cell cultures (fibroblasts and chondrocytes)
- tissue biopsies (skin, cartilage or bone)
- frozen tissue specimens

... are valuable and welcome but should be submitted only after direct phone or(e)mail contact. Please do not ship without prior agreement, as you may risk losing valuable material of your patient(s)!

When shipping samples, please  attach the following Patient Registration Form completely filled in. We also need a copy of the filled in Consent Form (one per individual). You can either use our consent form or the one  used in your institute.