Syndromes Panels

Exatus Gene offers numerous panels for syndromes, below is a list of the main ones offered:

 

  • Mitochondrial Disease Panel (Nuclear and Mitochondrial DNA)
  • Treatable Diseases Panel
  • Velocardiofacial and DiGeorge Syndrome (22q11 region MLPA)
  • Panel for Marfan Syndrome and Related Diseases
  • Rett syndrome (MECP2 gene sequencing)
  • Fragile X Syndrome (FMR1 expansion)
  • Neurofibromatosis Panel
  • Tuberous Sclerosis Panel
  • Autism Panel
  • WAGR syndrome (MLPA of region 11p13)
  • Williams syndrome (MLPA of region 7q11.23)
  • Wolf-Hirschhorn syndrome (MLPA of the 4p16 region)
  • Russell-Silver syndrome (11p15 methylation)
  • Smith-Magenis Syndrome (MLPA of the 17p11 region)
  • Sotos Syndrome (MLPA of the 5q35 region)
  • Phelan-McDermid Syndrome (MLPA of the 22q13 region)
  • Rubinstein-Taybi syndrome (MLPA of the 16p13 region)
  • Langer-Giedion syndrome (MLPA of region 8q24)
  • Marfan syndrome (FBN1 gene sequencing)
  • Miller-Dieker Syndrome (MLPA of the 17p13 region)
  • Angelman and Prader-Willi syndrome (methylation)
  • Beckwith-Wiedemann syndrome (11p15 methylation)
  • Cri du Chat Syndrome (MLPA of the 5p15 region)
  • 1p36 Deletion Syndrome (MLPA of the 1p36 region)
  • Saethre-Chotzen Syndrome (MLPA from TWIST1 or region 7p21)
  • CHARGE syndrome (CHD7 gene sequencing)
  • Noonan Syndrome and Rasopathies Panel
  • Clinically Recognizable Syndromes Panel
  • Ehlers-Danlos and Cutis Laxa Panel
  • Craniosynostosis Panel
  • Skeletal Diseases Panel
  • Cystic Fibrosis (CFTR gene sequencing)

 

Among others, consult our team and learn more about each panel.