AGDx NGS – Ehlers-Danlos syndromes and related disorder panel v2.1

Test code: V00002
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Ehlers-Danlos type IV – vascular type – excluded

Genes

ADAMTS2, B3GALT6, B3GAT3, B4GALT7, CHST14, CHST3, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, FLNB, PLOD1, PLOD3, PRDM5, SLC39A13, TNXB

Lab method

NGS Sequencing

Turnaround time

3 months

Price  1.115,00

Category:

  • Brittle cornea syndrome (OMIM: 229200)
  • Ehlers-Danlos syndrome - EDS
  • Ehlers-Danlos syndrome kyphoscoliotic type (OMIM: 225400)
  • Ehlers-Danlos syndrome type I - classic type (OMIM: 130000)
  • Ehlers-Danlos syndrome type II - classic type (OMIM: 130010)
  • Larsen syndrome (OMIM: 150250)
  • Lysyl hydroxylase 3 deficiency (OMIM: 612394)
  • Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (OMIM: 245600)
  • Spondylocheirodysplasia (OMIM: 612350)