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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