Chromosome Five-cell Count Plus Microarray (Reveal®), CVS

Also known as: CVS Chromosome Five-cell Count Plus Microarray (Reveal®)

Clinical Use

Use

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. It 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. The SNP assay will detect chromosomal imbalances that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent.

Special Instructions

Not provided.

Limitations

This SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin, or tetraploidy. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Test Details

Methodology

Chromosomal / Cytogenetics

Biomarkers

2 components

Chromosomal AnalysisSNP Microarray

LOINC Codes

Result Codes

64089-6 - Cells counted CVS
64086-2 - Cells analyzed CVS
64085-4 - Cells karyotyped.total CVS
64087-0 - ISCN band level CVS Ql
33774-1 - Karyotyp CVS
64088-8 - Karyotyp CVS
31208-2 - Specimen source
48672-0 - Clinical cytogeneticist Spec
11502-2 - Laboratory report
48000-4 - Chromosome Bld/T
62365-2 - Diagnostic imp Spec-Imp

Result Turnaround Time

10-21 days

Specimen

Tissue (Unknown)

Volume

20 to 30 mg

Minimum Volume

5 mg for cultured array and chromosomes, 15 mg for direct array and cultured chromosomes

Container

CVS transport tube (a sterile specimen container with transport medium)

Collection Instructions

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.

Storage Instructions

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.