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Test ID: NADF Newborn Aneuploidy Detection, FISH

Useful For

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens

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 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.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

Newborn Aneuploidy Detection, FISH

Specimen Type

Whole blood


Specimen 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

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred)
  Refrigerated 

Clinical Information

Approximately half of clinically recognizable spontaneous abortions have a major chromosomal anomaly.

 

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 8/1,000 have a major chromosome anomaly, of which 6.5/1,000 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 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.

Interpretation

An interpretive report will be provided.

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

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m. to 5 p.m. CST.

Analytic Time

3 days

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 In Process

 

Result ID Test Result Name Result LOINC Value
51930 Result Summary 50397-9
51932 Interpretation In Process
54552 Result No LOINC Needed
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 No LOINC Needed

Forms

New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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