Gene

EFNB1 - craniofrontonasal syndrome ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 410

EFNB1 - craniofrontonasal syndrome ¹



€ 410

EFNB1 - craniofrontonasal syndrome ¹

This test is available for the following conditions:

  • Conditions > Skeletal > Craniofrontonasal syndrome (CFNS)

This product is also part of the following panels:

  • Craniofacial anomalies panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Orofacial clefting panel
  • Short stature/skeletal dysplasia panel
  • 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
  • Deletion/duplication analysis (MLPA)

OMIM: 300035
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410