Test of KaryoLite BoBs

Omics test Model
Test Code KB
Test Summary Test of KaryoLite BoBs.
Turn Around Time 10 days
Acceptable Sample Types Amniotic Fluid , Cultured Amniocytes , Cultured Chorionic Villi , DNA, Isolated , Whole Blood (EDTA)
NY Approved No
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test Code: KB
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Test Description

Karyolite BoBs is an assay designed to detect p and q arms gains and losses of all 24 chromosomes in DNA samples. Its unique design allows to obtain reliable results even for DNA with low quality : POC (Products of Conception) and few to single cell amplified DNA.

KaryoLite BoBs kit enables the investigation of targeted chromosomal changes in extracted DNA. It provides information about DNA copy number changes on the level of chromosome arms. Clones are targeted to each chromosome arm of metacentric and submetacentric chromosomes, and to q-arms of acrocentric chromosomes. Each arm includes at least two probes, one on the subtelomeric part of the chromosome and the other on the distal part of the chromosome. Each probe, on the other hand, is composed of DNA derived from three BACs. The product is not intended for studies of cryptic (sub)telomeric rearrangements.

The analysis comprises hybridization of labeled sample and reference DNA to their complementary BACs-on-Beads probes. Sample hybridizations are performed in singlicates, and the references are hybridized in duplicates as two labeling reactions are performed for the reference DNAs. After hybridization, the signal intensities are read using the Luminex® 100/200™ instrument system with either IS 2.3 or xPONENT® 3.1 software versions. BoBsoft™ analysis software takes in the Luminex® 100/200™ instrument system output file and is used to compare signal intensities between sample and references to identify DNA copy number changes across the target regions.

Indications for Testing

  • Products of conception.
  • Direct CVS: alternative to direct CVS culturing .
  • PGS: Preimplantation Genetic Screening for aneuploid embryos.

Test Methods and Limitations

KaryoLite BoBs kit is a qualitative test that is used for research of DNA copy number changes on the level of chromosome arms. KaryoLite BoBs kit belongs to the BACs-on-Beads™ (BoBs) family of products. BACs-on Beads is a molecular cytogenetic technology comparable to fluorescence in situ hybridization (FISH) in a liquid format. It is a bead-based molecular karyotyping assay utilizing probes derived from bacterial artificial chromosome (BAC) DNA and coupled to encoded microspheres. It consists of 90 DNA probes immobilized onto polystyrene microspheres distinguishable by the Luminex® 2 instrument system. The probes are composed of DNA derived from three different BACs.

Detailed Sample Requirements

Cultured Amniocytes
Test Details Page
Special Sample Instructions Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.
DNA, Isolated
Test Details Page
Collection

Required DNA Quantity by Test Type*:

  • Next Generation Sequencing (NGS): Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA.
  • Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested).
  • Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.
Sample Condition * Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met.
Shipping Ship overnight at ambient temperature.
Special Sample Instructions
  • Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results.
  • Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor before submitting a DNA sample from any non-CLIA-certified laboratory.
  • Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.
Cultured Chorionic Villi
Test Details Page
Collection Container(s) Two T-25 flasks
Collection

All prenatal specimens will be tested for maternal cell contamination (MCC). Send maternal blood (EDTA tube) for comparison. If blood is unavailable, we will accept genomic DNA and Saliva sample types.
Sample Condition Transfer cultured amniocytes or cultured CVS to two T-25 flasks at ≥80% confluence.
Shipping Cultures topped off with sterile medium and shipped immediately at ambient temperature by overnight express with arrival Monday-Friday only.
Special Sample Instructions For prenatal samples, Revvity Omics will provide a shipping label to use for shipping the sample to our lab. Please call 1 (866) 354-2910 to arrange this. At this time, you will also be connected to a laboratory genetic counselor to answer any questions about the testing. For samples originating outside of the United States, please contact your nearest Revvity Omics laboratory for more information.
Amniotic Fluid
Test Details Page
Special Sample Instructions Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.
Whole Blood (EDTA)
Test Details Page
Collection Container(s) EDTA (purple top)
Collection Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.
Sample Condition Store at ambient temperature. Do not refrigerate or freeze.
Shipping Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
Special Sample Instructions Clotted or hemolyzed samples are not accepted.