Invoice

Detection of pathogenic or likely pathogenic gene variants, requested by a specialist or consultant physician, for any of the following: (a) a patient with a suspected neuromuscular disorder, being a neuromuscular disorder with signs and symptoms associated with variants that are not detectable by massively parallel sequencing; (b) a relative of a patient with a pathogenic or likely pathogenic germline gene variant associated with a neuromuscular disorder (confirmed by laboratory findings); (c) the reproductive partner of a patient with a recessive pathogenic or likely pathogenic germline gene variant associated with a neuromuscular disorder (confirmed by laboratory findings) Applicable once per gene per lifetime