Chromosome Analysis-count 5 cells, 1 Karotype

Test ID: 

703382

CPT code:

88261

Synonyms:

Chromosome Five-cell Count plus Microarray (Reveal®), Whole Blood

Abbreviated Blood Chromosome Analysis

Microarray, Blood (Reveal®), SNP

Clinical Use:

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.

Specimen Type:

Whole blood

Requested Volume: 

4 mL

Minimum Volume: 

2 mL

Container Type: 

Green-top (heparin) tube (preferred); yellow-top (ACD) tube is acceptable

Storage Instructions:

Maintain specimen at room temperature.

Rejection Criteria

Hemolysis; gross contamination; clotted specimen; frozen specimen; fixed specimen; improper or too much anticoagulant

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