Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost-benefit analysis

• Main Authors: Neus Castells-Sarret (Author), Anna M. Cueto-González (Author), Mar Borregan (Author), Fermina López-Grondona (Author), Rosa Miró (Author), Eduardo Tizzano (Author), Alberto Plaja (Author)
• Format: Book
• Published: Elsevier, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background and objective: Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 and 5.8%. Currently the c...