Syndromology | Human Genetic Diagnostics

Many health disorders or development peculiarities are subject to hereditary influences. Especially rare syndroms of children or young adults often have genetic causes. We are happy to advise your patients if the diagnosed disease possibly has genetic reasons.

Genetic developmental disorders of children and young adults (Syndromology)

Epilepsy
  • Aarskog-Syndrome
  • Angelman/Angelmanlike-Syndrome
  • Autism
  • Bardet-Biedl-Syndrome
  • Cockayne-Syndrome
  • de-Lange-Syndrome
  • Costello-Syndrome
  • DiGeroge-Syndrom
  • Ehlers-Danlos-Syndrome (vascular expression)
  • family hemiplegic migraine
  • Friedrich-Syndrome
  • Gilbert-Syndrome
  • Gilles-de-la-Tourette-Syndrome
  • Klinefelter-Syndrome
  • Leopard-Syndrome
  • Lips, Cleft, Palate
  • Marfan-Syndrome
  • Microdeletion syndromes
  • Microcephaly
  • Noonan-Syndrome
  • Rett Syndrome and Rett similar disorders
  • Romano-Ward-Syndrome
  • Russel-Silver-Syndrome
  • Smith-Magenis-Syndrome
  • Walker-Warburg-Syndrome
  • Werner-Syndrome
Development peculiarities and Autism are tested with an Array .
  • CytoSNP - 850 BeadChip (Illumina)

Furthermore, Exom Analysis, e. g. as trio for a clinic / Whole Exom are possible (TruSight One / IDT Version 2.0)