Stylized X-ray image of a torsal skeleton

Update: Panels for Skeletal Disorders and Connective Tissue Diseases

Expanded to more than 300 genes – 5 new gene sets. We have brought our Panels for Skeletal Disorders and Connective Tissue Diseases up-to-date with the latest science.

The Panel for Skeletal Disorders has been updated and expanded by 87 genes to 301 Genes, while the Panel for Connective Tissue Diseases has been expanded by 6 genes to 55 Genes. The diagnostic sensitivity has been increased and further differential diagnoses are now available.

For Panel for Skeletal Disorders a large number of changes have been implemented. The following gene sets have been expanded:

  • SKT03, Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia
  • SKT04, Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia
  • SKT05, Short-rib dysplasia
  • SKT07, Osteogenesis imperfecta and related skeletal dysplasias with decreased bone density
  • SKT08, Osteopetrosis and related skeletal dysplasias with increased bone density
  • SKT10, Limb malformations: isolated brachydactyly, synostoses, split-hand/foot, polydactyly, syndactyly, and selected genetic syndromes with limb malformations
  • SKT11, Craniosynostosis
  • SKT12, Potentially lethal skeletal disorders
  • SKT13, Seckel syndrome, 3-M syndrome, Rubinstein–Taybi syndrome, Kabuki syndrome, and further selected genetic syndromes with skeletal involvement

The Panel now also includes new gene sets for the diagnosis of lysosomal storage disorders with skeletal involvement (SKT14) and the craniofacial and patellar dysostoses (SKT15).

In addition, the gene sets of frequently requested single gene analyses can now be ordered via the Panel for Skeletal Disorders:

  • Achondroplasia, hypochondroplasia, and pseudoachondroplasia (FGFR3, COMP; SKT16)
  • Cleidocranial dysplasia (RUNX2 and differential diagnoses, SKT17)
  • Multiple exostoses (EXT1, EXT2; SKT18)

The Panel for Connective Tissue Diseases has been updated and expanded as well. Genes such as C1S, C1R and BGN are now covered by our gene set CTD02 (Connective tissue diseases: Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic aneurysm and related disorders).

Please also note our cost and time efficient large panel approach. We always sequence all genes of a panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to any desired gene set for only little additional costs. Furthermore, all diagnostic panels include a panel-wide deletion/duplication screening using the copy number variation (CNV) track. We validate our analysis by means of MLPA or qPCR. The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available.

For further assistance please contact our team at sales@cegat.de. The new panel can be ordered here:

Panels for Skeletal Disorders

Panels for Connective Tissue Diseases