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Chromosome Five-cell Count Plus Microarray (Reveal®), CVS
- CVS Chromosome Five-cell Count Plus Microarray (Reveal®)
DNA extraction; interpretation; limited five-cell chorionic villus sample (CVS) chromosome analysis (two analyses, one karyotype)
Microarray detects chromosomal imbalance that could be associated with developmental delay and congenital anomalies. Test provides detection of uniparental disomy of any chromosome, the percentage and location of homozygosity, including the degree of identity by descent. The test allows prenatal detection of chromosomal aneuploidy, and is used to rule out tetraploidy and rearrangements not detected by array, such as balanced translocations 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 and may not detect low-level mosaicism.
Whole genome SNP-based copy-number microarray analysis targeting 2.695 million copy-number and allele-specific genome sites from uncultured cells. If DNA yield on uncultured cells is inadequate, analysis will be performed on cultured cells. Five-cell G-band chromosome analysis.
Chorionic villus sample (CVS)
Gender by ultrasound is recommended when possible. Please submit maternal blood (sodium heparin or EDTA) for maternal cell contamination (MCC) studies.
If the specimen does not meet minimum DNA quality and quantity requirements, array testing will be performed on cultured material.
20 to 30 mg (for concurrent array and chromosomes)
5 mg for cultured array and chromosomes, 15 mg for direct array and cultured chromosomes
CVS transport tube (available from cytogenetics laboratory, call 800-533-0567, ext 4065 or 3300); sterile specimen container with transport medium
Specimen is collected in syringe (transabdominal) or catheter (transcervical) and transferred by flushing with the media from the sterile container back into it. After collecting the specimen, wash with sterile saline solution (NaCl 0.95%) containing sodium heparin (two to three drops of sodium heparin in 10 mL of saline). Carefully transfer the specimen, into the CVS transport tube, using a sterile Pasteur pipette or a sterile fine-needle forceps. Be sure to fill transport tubes completely with medium. Samples from twin (multiple) pregnancies should be appropriately labeled and placed in separate transport containers with a separate test request form for each twin.
Maintain specimen at room temperature, and transport it to the cytogenetics laboratory immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Causes for Rejection
No villi submitted in specimen; improperly labeled specimen; frozen specimen; specimen placed in fixative
A completed Clinical Questionnaire for SNP Microarray should accompany specimens. Call 800-345-4363 to request the appropriate form, or photocopy the form from the Genetics Appendix online.
Concurrent maternal contamination (MCC) studies are required.
This test includes a limited 5 cell chorionic villi sample (CVS) chromosome analysis, which includes two analyses and one karyotype. This test is used to rule out tetraploidy and balanced translocations and inversions not detected by microarray analysis. If specimens from a twin pregnancy are submitted by request it can be reported if these are DZ or MZ twins.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|511555||CVS Chrom 5 Cell Cnt + CMA||510193||Cells Counted||64089-6|
|511555||CVS Chrom 5 Cell Cnt + CMA||510194||Cells Analyzed||64086-2|
|511555||CVS Chrom 5 Cell Cnt + CMA||510196||Cells Karyotyped||64085-4|
|511555||CVS Chrom 5 Cell Cnt + CMA||510197||GTG Band Resolution||64087-0|
|511555||CVS Chrom 5 Cell Cnt + CMA||510199||Cytogenetic Diagnosis||33774-1|
|511555||CVS Chrom 5 Cell Cnt + CMA||510994||Cytogenetic Interpretation||64088-8|
|511555||CVS Chrom 5 Cell Cnt + CMA||510202||Specimen Type||31208-2|
|511555||CVS Chrom 5 Cell Cnt + CMA||510996||Director Review:||48672-0|
|511555||CVS Chrom 5 Cell Cnt + CMA||512123||80563-0|
|511555||CVS Chrom 5 Cell Cnt + CMA||510103||Specimen Type||31208-2|
|511555||CVS Chrom 5 Cell Cnt + CMA||510104||# of Genotyping Targets||N/A|
|511555||CVS Chrom 5 Cell Cnt + CMA||510105||Array Type||N/A|
|511555||CVS Chrom 5 Cell Cnt + CMA||510106||Diagnosis||48000-4|
|511555||CVS Chrom 5 Cell Cnt + CMA||510107||Interpretation||62365-2|
|511555||CVS Chrom 5 Cell Cnt + CMA||510108||Director Review||48672-0|