| Summary | Detects aneuploidy, rearrangements, deletions, inversions |
| Specimen types | Peripheral blood, skin |
| Turnaround times | 14-21 days |
Constitutional Disease Testing
Washington University’s Cytogenetics and Molecular Pathology Laboratory offers a variety of constitutional disease testing including chromosome analysis, chromosomal microarray analysis (CMA) and fluorescence in-situ hybridization (FISH).
Indications for testing include, but are not limited to, family history of genetic aberrations, congenital malformations, dysmorphic features, developmental delay, intellectual disability, autism spectrum disorders, growth retardation, disorders of sexual differentiation and infertility and multiple spontaneous abortions.
REQUISITIONSPECIMEN INSTRUCTIONS
Chromosome Analysis
Chromosomal Microarray Analysis (CMA)
| Summary | Affymetrix CytoScan HD assay with genomic DNA extraction to detect small gains and losses across the entire genome |
| Specimen types | Buccal swabs, fibroblasts, peripheral blood, skin |
| Turnaround times | 21-28 days |
Fluorescence In-Situ Hybridization (FISH)
| Summary | Aneuploidy and microdeletion testing |
| Specimen types | Peripheral blood |
| Specific tests offered | Aneuscreen (13/21, 18/X/Y)
Angelman (D15S10) Cri du Chat (EGR1) DiGeorge/VCF (TUPLE1) Miller-Dieker (LIS1) Prader-Willi (SNRPN) Smith-Magenis (SMS) SRY gene (SRY) Steroid Sulfatase Deficiency (STS) Williams (ELN) Wolf-Hirschhorn (WHS) 1p36 deletion (p58) |
| Turnaround times | Depends on test.
Aneuscreen: 3-5 days; STAT available in 24-48 hours Microdeletion testing: 5-7 days |