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HelpTest Code NADFM Newborn Aneuploidy Detection, FISH
Reporting Name
Newborn Aneuploidy Detection, FISHUseful For
Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole bloodSpecimen Required
Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.
Container/Tube: Green top (sodium heparin)
Specimen Volume: 5 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
3. Advise Express Mail or equivalent if not on courier service.
4. Cord blood is acceptable.
Specimen Minimum Volume
1 mL
Testing Algorithm
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes 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.
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | ||
| Refrigerated | |||
Special Instructions
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Specimens are processed Monday through Sunday.
Results reported Monday through Friday, 8 a.m. to 5 p.m.
Test Classification
This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.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)
88275 – Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| NADF | Newborn Aneuploidy Detection, FISH | 57318-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 51930 | Result Summary | 50397-9 |
| 51932 | Interpretation | 69965-2 |
| 54552 | Result | 57318-8 |
| CG694 | Reason for Referral | 42349-1 |
| 51933 | Specimen | 31208-2 |
| 51934 | Source | 31208-2 |
| 51935 | Method | 49549-9 |
| 51931 | Additional Information | 48767-8 |
| 53862 | Disclaimer | 62364-5 |
| 51936 | Released By | 18771-6 |
Clinical Reference
1. Jalal SM, Law ME: Detection of newborn aneuploidy by interphase fluorescence in situ hybridization. Mayo Clin Proc 1997;72:705-710
2. Cassidy SB, Allanson JE: Management of Genetic Syndromes. Second edition. Hoboken, NJ, John Wiley and Sons, 2005, p 557
3. Sheets KB, Crissman BG, Feist CD, et al: Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors. J Genet Couns 2011;20:432-444
Method Description
This test is performed using probes for the centromere regions of chromosome X (DXZ1), Y (DYZ3), and 18 (D18Z1), and locus-specific probes for 13q14 and 21q22. For each probe set, 2 technologists each analyze 50 interphase nuclei (100 total). Aneuploidy of chromosomes 13, 18, 21, X, and Y is reported.(Unpublished Mayo method)
Analytic Time
3 daysReject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Method Name
Fluorescence In Situ Hybridization (FISH)
Forms
New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
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 |