Gene

PNPLA6 - Boucher-Neuhauser syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

PNPLA6 - Boucher-Neuhauser syndrome



€ 501

PNPLA6 - Boucher-Neuhauser syndrome

This test is available for the following conditions:

  • Conditions > Neurological > Boucher-Neuhauser syndrome
  • Conditions > Vision impairment / blindness > Boucher-Neuhauser syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Hypogonadotropic hypogonadism (Kallmann) panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Movement disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Vision disorders panel

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

Method

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

OMIM: 603197
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 501