Washington University’s Clinical Genomics 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.

Chromosome Analysis
SummaryDetects aneuploidy, rearrangements, deletions, inversions
Specimen typesPeripheral blood, skin
Turnaround times14-21 days
Chromosomal Microarray Analysis (CMA)
SummaryAffymetrix CytoScan HD assay with genomic DNA extraction to detect small gains and losses across the entire genome
Specimen typesBuccal swabs, fibroblasts, peripheral blood, skin
Turnaround times21-28 days
Fluorescence In-Situ Hybridization (FISH)
SummaryAneuploidy and microdeletion testing
Specimen typesPeripheral blood
Specific tests offeredAneuscreen (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 timesDepends on test.
Aneuscreen: 3-5 days; STAT available in 24-48 hours
Microdeletion testing: 5-7 days