Gene

ADAMTSL2 - geleophysic dysplasia type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

ADAMTSL2 - geleophysic dysplasia type 1



€ 435

ADAMTSL2 - geleophysic dysplasia type 1

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Geleophysic dysplasia
  • Conditions > Multiple congenital anomalies (MCA) > Geleophysic dysplasia

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 612277
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435