Pathology & Clinical Laboratory Medicine
LABORATORIES & TESTS
Children’s Hospital Oakland Cytogenetics Laboratory: Diagnostic tests
• Annuvision FISH for prenatal diagnosis
• FISH testing for many microdeletion syndromes and chromosomal rearrangments
• High resolution karyotypes
• Protelomere screen
• Standard cytogenetic analyses (karyotype) available for samples from blood, amniotic fluid, chorionic villus sampling, bone marrow, skin fibroblasts, products of conception, tumor tissues
Molecular Genetics Laboratory: Diagnostic tests
• Achondroplasia G380R mutation of FGFR3
• Cystic fibrosis mutation screen
• Fragile-X syndrome
• Hemoglobin S, C, E, D
• Medium chain acyl Co-A dehydrogenase deficiency
• Prader-Willi/Angelman syndrome
• Spinal muscular atrophy Types 1, 2, and 3
• UPD chromosome 7
• Y microdeletions
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