AGDx NGS – Osteogenesis Imperfecta and related disorders panel v3.0

Test code: V00019
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Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal disorder characterized by frequent bone fractures with or without minimal trauma. In addition to bone fractures, patients may have scoliosis, bowing of long bones, short stature, blue sclera, hearing loss, dentin defects, muscle weakness or joint laxity.

Genes

ALPL, ANO5, B3GALT6, B3GAT3, B4GALT7, BMP1, CCDC134, CHST3, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, GORAB, IFITM5, KDELR2, LIFR, LRP5, MBTPS2, MESD, NBAS, P3H1, P4HA1, P4HB, PLOD2, PLOD3, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SGMS2, SLC10A7, SP7, SPARC, TAPT1, TENT5A, TMEM38B, WNT1, XYLT1, XYLT2

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

  • Bruck syndrome (OMIM: 259450)
  • Hypophosphatasia
  • Osteogenesis imperfecta (OMIM: 166200)
  • Osteoporosis - early onset (OMIM: 615221)
  • Osteoporosis-pseudoglioma syndrome (OMIM: 259770)