Boucher-Neuhauser syndrome

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

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