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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
Mendelian inherited disorders panel
Metabolic disorders panel
Movement disorders panel
Short stature/skeletal dysplasia panel
Vision disorders panel

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

Method