Diagnostic tests
• FISH
• Karyotype
• Microarray
• Single-gene sequencing
• Multi-gene sequencing
• Whole exome sequencing
For families who choose not to pursue prenatal diagnostic testing or for babies born without a prenatal diagnosis, Children’ s Colorado offers an on-call team of genetic and metabolic physicians, nurses, dietitians and a genetic counselor who can coordinate postnatal genetic evaluation. This team provides some of the most comprehensive and rapid genetic tests available, including rapid whole genome sequencing. If a genetic diagnosis is established, this information can help guide care. If a genetic diagnosis is not identified, the team remains available to help coordinate further testing or future follow-up.
Genetic diagnoses( 2019-2020)
• Turner syndrome
• Down syndrome
• Trisomy 18
• Trisomy 13
• Achondroplasia
• Tuberous sclerosis complex
• Noonan syndrome
• Tetrasomy 18p
• Osteogenesis imperfecta
• Tetrasomy 9p
• Pallister-Killian syndrome
• Cri-du-Chat syndrome
• VACTERL association
• 22q11.2 deletion syndrome
• L1CAM associated hydrocephalus
• Chromosomal deletions and duplications
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