AneuVysion, which utilizes patented fluorescence in situ hybridization (FISH) technology applied to uncultured amniocytes, provides detection of trisomies 13, 18, and 21 (Down syndrome) and sex chromosome aneusomies in as little as 24 hours. Together these conditions account for nearly two thirds of all abnormalities identified at the time of amniocentesis, and 85-90% of clinically significant chromosomal abnormalities detected in live-born infants. Review of AneuVysion testing of over 29,000 amniotic fluid samples has found that the test is 99.9% accurate for the detection of trisomies 13, 18, 21, and aneusomies of X and Y. There are several benefits of the AneuVysion Test. Results are rapidly available, within 24 hours after the amniocentesis sample is received in the laboratory (rather than 7-22 days for routine chromosome analysis). In accordance with professional standards, the availability of AneuVysion results along with consistent clinical information (i.e., fetal anomalies detected by ultrasonography) allows for pregnancy management options that otherwise might not be available due to late gestational age. Finally, in the rare case of a culture failure when standard cytogenetic results cannot be obtained, information on chromosome number for the most likely aneusomies is available.

PROBE MIXTURE #1

• CEP 18: D18Z1 alpha satellite DNA probe corresponding to 18p11.1-q11.1 labeled with SpectrumAqua
• CEP X: DXZ1 alpha satellite DNA probe corresponding to Xp11.1-q11.1 labeled with SpectrumGreen
• CEP Y: DYZ3 alpha satellite DNA probe corresponding to Yp11.1-q11.1 labeled with SpectrumOrange

PROBE MIXTURE #2

• LSI 18: DNA probe corresponding to the RB1 gene (13q14) labeled with SpectrumGreen.
• LSI 21: DNA probe corresponding to loci D21S259, D21S341, and D21S342(21q22.13-q22.2) labeled with SpectrumOrange.

Mixture #1 is complete with labeled probes and non-labeled blocking DNA in hybridization buffer.
 

INTENDED USE

For In Vitro Diagnostic Use

The AneuVysion (Vysis CEP 18, X, Y-alpha satellite, LSI 13 and 21) Multicolor Probe Panel is intended to use CEP 18/X/Y probe to detect alpha satellite sequences in the centromere regions of chromosomes 18, X, and Y, and LSI 13/21 probe to detect the 13q14 region and the 21q22.13 to 21q22.2 region. The AneuVysion kit is indicated for identifying and enumerating chromosomes 13, 18, 21, X, and Y via fl uorescence in situ hybridization (FISH) in metaphase cells and interphase nuclei obtained from amniotic fl uid in subjects with presumed high risk pregnancies. It is not intended to be used as a stand alone assay for making clinical decisions.

FISH results are intended to be used as an aid in the diagnosis of numerical abnormalities of chromosomes 13, 18, 21, X and/or Y in conjunction with other information currently used in prenatal diagnosis, consistent with professional standards of practice. This device is intended for use only with amniocyte cells; it is not intended for and has not been validated for use with other test matrices. This FISH assay will not detect the presence of structural chromosome abnormalities that can also result in birth defects. This FISH assay will be performed in cytogenetics laboratories.

LIMITATIONS

1. The AneuVysion kit has been characterized only for identifying targeted regions of chromosomes X,Y,18,13, and 21 in interphase nuclei from cultured and uncultured amniocyte specimens.
2. The clinical interpretation of any test result(s) should be made inconjunction with other diagnostic laboratory test results and should be evaluated within the context of the patient’s medical history and current risk factors. Clinical decision making should be based on information from FISH and at least 1 of the following results: confirmatory standard chromosome analysis or consistent clinical information, such as an abnormal ultrasound finding or a positive screening test result for Down syndrome or trisomy 18.
3. FISH assay results may not be informative if the specimen quality and/or specimen slide preparation is inadequate.
4. This assay will not detect the presence of structural abnormalities frequently associated with birth defects. The frequency of these occurrences may be population and gestational age dependent.
5. This assay should not be perform edonamniocyte specimens with moderate to severe maternal cell contamination. FISH test results on amniocyte specimens with mild maternal cell contaminations should be interpreted with caution.
6. No irreversible therapeutic action should be initiated based on the FISH assay alone. Positive results should be further characterized using traditional chromosome analysis to determine the mutational mechanism accounting for the abnormality detected by FISH. This information may aid in the counseling for the risk that the detected abnormality may occur in future pregnancies.
7. Physicians, counselors, and other healthcare providers should understand the risk of abnormalities that the test is not designed to detect. The patient should be informed that there is still a very small risk of low level mosaicsim, cryptic translocations, or other undetectable events that may not be demonstrated by FISH or standard cytogenetic. Additionally, there is a very small risk that some individuals carry a genetic polymorphism that may affect the intensity, presence or absence of the probe signal that may result in a missed diagnosis.
8. When the specimen volume is not sufficient to meet the minimum requirements for processing both FISH and standard cytogenetic procedures, the user must carefully weigh the risks and benefits of utilizing any material for FISH. Consultation between the laboratory geneticist and/or genetic counselor and the patient’s physician may aid in clarifying what information is desired, and which testing method should be used.
9. Technologists performing the FISH signal enumeration must be capable of visually distinguishing between orange, green and aqua signals.
10. Although the probe for enumerating chromosome 13 spans the Rb1 locus, this probe has not been validated for detecting mutations associated with retinoblastoma. In rare cases, the Rb1 locus may be deleted; this could complicate interpretation of FISH test results.
     

Warnings and Precautions

1. For In Vitro Diagnostic Use
2. All biological specimens should be treated as if capable of transmitting infectious agents. ProbeChek Control Slides are manufactured from human cultured cells that have been fixed in a solution of methanol:acetic acid (3:1, v:v). Because it is often impossible to know which might be infectious, all human specimens and control slides should be treated with universal precautions. Guidelines for specimen handling are available from the U.S. Centers for Disease Control and Prevention.
3. Hybridization conditions may be adversely affected by the use of reagents other than those provided or recommended by Abbott Molecular Inc.
4. Failure to follow all procedures for slide denaturation, hybridization and signal enumeration may cause unacceptable or erroneous results.
5. Fluorophores are readily photobleached by exposure to light. To limit this degradation, handle all solutions containing fluorophores in reduced light. This includes all steps involved in handling the hybridized slide. Carry out all steps that do not require light for manipulation (incubation periods, washes, etc.) in subdued light.
6. Probe mixtures contains formamide, a teratogen. Avoid contact with skin and mucous membranes. Refer to MSDS for more information.
7. The use of a calibrated thermometer is strongly recommended for measuring temperatures of solutions, waterbaths, and incubators as these temperatures are critical for optimum product performance.
8. All hazardous materials should be disposed of according to your institution, local and state guidelines for hazardous disposal.
    

Rx Only

To learn more about AneuVysion please visit: https://www.molecular.abbott/us/en/products/genetics-genomics/aneuvysion-multicolor-dna-probe-kit