Orphanet: Diagnostik von Retardierungs und Dysmorphiesyndromen NGS Screening Panel, 353 Gene

Search for a diagnostic test

* (*) mandatory field

Diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 genes)

  • Phone : 49 (0)89 3090 8860
  • Additional Phone : -
  • Fax : 49 (0)89 3090 8866
  • Website
  • Contact
Last update: June 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (481)
List of genes tested (including panels) (353)
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.