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Test ID: POCF Products of Conception (POC) Aneuploidy Detection, FISH, Paraffin-Embedded Tissue

Useful For

Screening for chromosomal aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y when fresh tissue is not available

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_PBCT Probe, +2 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
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

Testing Algorithm

This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.

 

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

POC Aneuploidy Detection, FISH, Ts

Specimen Type

Tissue


Advisory Information


If a fresh specimen or specimen in fixative is submitted, ANPAT / Anatomic Pathology Consultation, Wet Tissue will be added by the laboratory, at an additional charge, to facilitate the performance of this test.



Necessary Information


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.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Tissue

Preferred: Tissue block

Collection Instructions: Formalin-fixed, paraffin-embedded tissue block containing fetal or placental (including chorionic villi) tissue.

Additional Information: A pathology report must be submitted 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.

Acceptable: Slides

Collection Instructions: 6 consecutive, unstained, 5-micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.

Additional Information: Do not send the entire fetus.


Specimen Minimum Volume

Formalin-fixed, paraffin-embedded tissue block
Four consecutive, unstained, slides and 1 hematoxylin and eosin-stained slide.

Specimen Stability Information

Specimen Type Temperature Time
Tissue Ambient (preferred)
  Refrigerated 

Clinical Information

Products of conception (POC) are tissues created at conception that spontaneously miscarry; these tissues include chorionic villi, fetal membranes, or fetal tissue. Spontaneous miscarriages occur in 15% to 20% of all recognized human conceptions. While there are many possible causes for miscarriages, chromosome anomalies can be identified in up to 50% of first-trimester miscarriages. It is important to determine a possible chromosomal cause of the pregnancy loss as this information impacts patient management and facilitates understanding of the reason for the loss.

 

Chromosomal aneuploidy, the gain or loss of chromosomes, is a major cause of early fetal demise. Trisomy is the most common type of chromosome abnormality in spontaneous abortions and has been observed for most chromosomes, with 13, 15, 16, 18, 21, 22, X, and Y being the most common.

 

Chromosomal microarray analysis of POC (CMAMT / Chromosomal Microarray, POC, FFPE) is available when a more comprehensive assessment for chromosome abnormalities is desired.

Reference Values

An interpretive report will be provided.

Interpretation

Aneuploidy is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe.

Clinical Reference

Laurino MY, Bennett RL, Saraiya DS, et al: Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. J Genet Couns 2005;14:165-181

Day(s) and Time(s) Performed

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

Analytic Time

5 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

88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report

88271 x 2-DNA probe, each; each additional probe set (if appropriate)

88271-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271 x 3-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
POCF POC Aneuploidy Detection, FISH, Ts In Process

 

Result ID Test Result Name Result LOINC Value
52063 Result Summary 50397-9
52065 Interpretation 69965-2
54573 Result 62356-1
CG729 Reason For Referral 42349-1
CG730 Specimen 31208-2
52066 Source 39111-0
52067 Tissue ID 80398-1
52068 Method 49549-9
55120 Additional Information 48767-8
53842 Disclaimer 62364-5
52069 Released By 18771-6

Forms

1. 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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.

3. Final Disposition of Fetal/Stillborn Remains in Special Instructions.

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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