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HelpTest Code NADF Newborn Aneuploidy Detection, FISH, Blood
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _PADD | Probe, +1 | No, (Bill Only) | No |
| _PB02 | Probe, +2 | No, (Bill Only) | No |
| _PB03 | Probe, +3 | No, (Bill Only) | No |
| _PBCT | Probe, +2 | No, (Bill Only) | No |
Testing Algorithm
This test includes a charge for the probe application, analysis, and professional interpretation of results for one probe set (2 individual fluorescence in situ hybridization probes). Additional charges will be incurred for additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Method Name
Fluorescence In Situ Hybridization (FISH)
Specimen Type
Whole bloodOrdering Guidance
This test does not detect aneuploidy of chromosomes other than 13, 18, 21, X, or Y. This test does not detect other chromosomal or structural anomalies and is intended to be ordered in conjunction with chromosomal microarray or chromosome analysis.
Low levels of mosaicism involving chromosomes 13, 18, 21, X, or Y may not be detected by this procedure.
Additional Testing Requirements
Normal fluorescence in situ hybridization (FISH) results will not exclude the majority of cytogenetically detectable abnormalities. FISH testing should be ordered in conjunction with additional cytogenetic testing (CHRCB / Chromosome Analysis, Congenital Disorders, Blood; or CMACB / Chromosomal Microarray, Congenital, Blood), as it does not substitute for complete cytogenetic analysis.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
A reason for testing is requested with each specimen. The laboratory will not reject testing if this information is not provided; however, appropriate testing or interpretation may be compromised or delayed in some instances. If not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Specimen Required
Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube. Do not aliquot.
3. Other anticoagulants are not recommended and are harmful to the viability of the cells.
4. Cord blood is acceptable.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Ambient (preferred) | |
| Refrigerated | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Up to 95% of chromosomal abnormalities diagnosed prenatally involve aneuploidy (gain or loss of whole chromosome) of chromosomes 13, 18, 21, X, and Y.
In liveborn infants, about 8 in 1000 have a major chromosome anomaly, of which 6.5 in 1000 involve aneuploidy of 1 of these 5 chromosomes.
Diagnosis of chromosomal disorders can be performed by chromosome analysis of uncultured blood, standard chromosome study, and the technique utilizing fluorescence in situ hybridization (FISH) based on interphase cells. Standard chromosome analysis takes 3 to 10 days and analysis from uncultured newborn blood is often unsatisfactory and labor-intensive. FISH-based methods facilitate rapid diagnosis of aneuploidy and may be helpful in medically urgent evaluations of newborn infants suspected to have aneuploidy of any of these chromosomes.
This test does not detect chromosomal aneuploidies other than 13, 18, 21, X, and Y or any structural anomaly that does not result in gain of these chromosomes.
Low levels of mosaicism involving chromosomes 13, 18, 21, X, or Y may not be detected by this assay.
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
Report Available
3 to 4 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
88271x2, 88291-DNA probe, each (first probe set), Interpretation and report
88271x2-DNA probe, each; each additional probe set (if appropriate)
88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)
88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)
88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)
Forms
New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.