9024

GTD Indications Diagnosis Prenatal GTD Samples Accepted Blood DNA DNA (Not Accepted for MLPA) GTD Test Methodology CNV Sequencing GTD Methodology Notes Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of FGFR2, FGFR3, TWIST1 GTD Notes DNA not accepted for MLPA Generic Test name (cms title) Craniosynostosis GTD Test type Gene Panel GTD Location The Hospital for Sick Children GTD Gene/Platform/Region List FGFR1, FGFR2, FGFR3, TWIST1 GTD Category Skeletal/growth GTD Disease/Condition Non-syndromic Craniosynostosis, Muenke syndrome, Muenke Nonsyndromic Coronal Craniosynostosis, Pfeiffer Syndrome, Acrocephalosyndactyly, Type V, Noack syndrome, Saethre-Chotzen Syndrome, Acrocephalosyndactyly, Type III, Acrocephaly, skull asymmetry and mild syndactyly, Crouzon Syndrome, Craniofacial dysostosis, Type I, Apert Syndrome, Acrocephalosyndactyly, Type I