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.


Chromosome Analysis

Summary Detects aneuploidy, rearrangements, deletions, inversions
Specimen types Peripheral blood, skin
Turnaround times 14-21 days

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