This test is no longer commissioned by NHS England. This means it is not available to order.

Congenital malformations and/or dysmorphism suggestive of an underlying monogenic disorder where targeted genetic testing is not possible.
Testing of individuals with syndromic overgrowth or overgrowth in combination with intellectual disability or developmental delay would also be appropriate under this indication
Testing Criteria
• Congenital malformations and/or dysmorphism highly suggestive of an underlying monogenic disorder where targeted genetic testing is not possible.
• Unexplained moderate/severe/profound global developmental delay or unexplained moderate/severe/profound intellectual disability, and where clinical features are highly suggestive of an underlying monogenic disorder requiring sequencing and targeted genetic testing is not possible.
• Craniofacial dysmorphism in combination with additional issues with health or development suggestive of a single genomic explanation, e.g. intellectual disability, congenital malformation, organ dysfunction.
• Syndromic overgrowth or overgrowth in combination with intellectual disability or developmental delay.
• Adults with congenital malformation and dysmorphism syndromes, however the clinical utility of testing should be made clear on the request form e.g. to inform a clinical management decision or reproductive choice.
• Fetus from a demised/non-continued pregnancy, with multiple major structural abnormalities detected on fetal ultrasound or post-mortem examination and where a monogenic malformation disorder is considered highly likely