Chromosome Analysis-count 5 cells, 1 Karotype
Chromosome Five-cell Count plus Microarray (Reveal®), Whole Blood
Abbreviated Blood Chromosome Analysis
Microarray, Blood (Reveal®), SNP
Detects chromosomal imbalance that may be present in newborns or children with developmental delay and congenital anomalies and autism; provides detection of uniparental disomy of any chromosome and the degree of consanguinity as well as the genomic locations of recessive allele risk. Positive evaluation criteria include: DNA copy gain/loss within known clinically significant gene region of 50 Kb or greater or DNA copy number loss >200 kb or gain >500 kb outside known clinically significant regions with at least one OMIM-annotated gene or within a region of clear clinical significance. UPD testing is recommended for patient results demonstrating a long contiguous region of homozygosity in a single chromosome >20 Mb interstitially or >10 Mb telomerically (15 and 8 Mb, respectively, for imprinted chromosomes). Contiguous homozygosity >10 Mb within multiple chromosomes suggests common descent. These regions of potential recessive allele risk are designated. Abbreviated chromosome analysis detects balanced rearrangements and inversions. Also helps to clarify array abnormalities to determine if a structural rearrangement, marker or isochromosome is present. Array can only provide copy number imbalances and cannot determine structure of an abnormality.
Green-top (heparin) tube (preferred); yellow-top (ACD) tube is acceptable
Maintain specimen at room temperature.
Hemolysis; gross contamination; clotted specimen; frozen specimen; fixed specimen; improper or too much anticoagulant