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Chromosome Five-cell Count plus Microarray (Reveal®), Whole Blood
- Abbreviated Blood Chromosome Analysis
- Microarray, Blood (Reveal®), SNP
DNA extraction; interpretation; limited five-cell high-resolution chromosome analysis (two analyses, one karyotype)
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.
This SNP assay does not detect balanced rearrangements, low level mosaicism or marker chromosomes that only contain heterochromatin.
Whole genome SNP-based copy-number microarray analysis targeting 2.695 million copy number and allele-specific genome sites
2 mL (neonatal) (Note: This volume does not allow for repeat testing.)
Maintain specimen at room temperature.
Causes for Rejection
Hemolysis; gross contamination; clotted specimen; frozen specimen; fixed specimen; improper or too much anticoagulant
A completed Clinical Questionnaire for SNP Microarray should accompany specimens. Call 800-345-4363 to request the appropriate form, or print/photocopy the form from the Genetics Appendix online.
This test may also be performed on adults. When a child tested with this assay is found to have an abnormal array of unknown clinical significance that may be clarified through parental testing, there will be no charge associated with the follow-up parental testing that is based on the child's results. All other parental follow-up testing will be charged, including (but not limited to) autism susceptibility regions, known microdeletions/microduplications, autosomal recessive deletions/duplications, and large copy-number changes possible and likely pathogenic significance. The child's abnormal array results will indicate whether parental testing will be performed at no charge and will include the appropriate parental follow-up test number. For parental follow-up testing for arrays not performed at LabCorp, call 800-345-4363 to speak to a genetic counselor.