Orphanet: Skeleti d�splaasia molekulaarne diagnostika

Search for a diagnostic test

* (*) mandatory field

Molecular diagnosis of skeletal dysplasia (panel)

  • Phone : 372 7 307295
  • Additional Phone : -
  • Fax : 372 7 307298
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.