Gene

SMARCAL1 - Schimke immunoosseous dysplasia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

SMARCAL1 - Schimke immunoosseous dysplasia



€ 468

SMARCAL1 - Schimke immunoosseous dysplasia

This test is available for the following conditions:

  • Conditions > Immunological, hereditary > Schimke immunoosseous dysplasia
  • Conditions > Skeletal > Schimke immunoosseous dysplasia
  • Conditions > Vision impairment / blindness > Schimke immunoosseous dysplasia

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Primary immunodeficiencies panel
  • Renal disorders panel
  • 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: 606622
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468