Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

Keyphrases

• Children's Hospital 100%
• Medical Center 100%
• Neurodevelopmental Disorders 100%
• Genetic Testing 100%
• Cincinnati 100%
• Neurodevelopmental Reflexes 100%
• Genetic Test 33%
• Pathogenic Variants 33%
• Female Patients 33%
• Premutation 33%
• Methyl-CpG-binding Protein 2 (MeCP2) 33%
• SNP Array 33%
• Test Ordering 33%
• Improved A 33%
• FMR1 CGG Repeats 33%
• Pathogenic Copy number Variant (pCNV) 33%
• Normocephalic 33%
• Full mutation 33%

Biochemistry, Genetics and Molecular Biology

• Retrospective Study 100%
• Genetic Screening 100%
• Copy-Number Variation 50%
• Premutation 50%
• Single Nucleotide Polymorphism 50%
• Allele 50%
• Genetic Test 50%
• FMR1 50%
• Mosaicism 50%
• MECP2 50%

Neuroscience

• MECP2 100%
• Mosaicism 100%
• Copy Number Variation 100%