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Test Code NADF Newborn Aneuploidy Detection, FISH, Blood


Ordering 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.


Forms

New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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 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)

Reporting Name

Newborn Aneuploidy Detection, FISH

Specimen Type

Whole blood

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

3 to 4 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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)        

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 85069-3
51931 Additional Information 48767-8
53862 Disclaimer 62364-5
51936 Released By 18771-6