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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


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.

 

Forms:

1. 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 (Supply T576) is available in Special Instructions.

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

(http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)

 

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.

 

Acceptable: Slides

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

Container/Tube: Formalin-fixed, paraffin-embedded tumor tissue block containing fetal or placental (including chorionic villi) tissue

Additional Information: Do not send the entire fetus.


Specimen Minimum Volume

Four consecutive, unstained, 5 micron-thick sections placed on positively charged 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.

 

Conventional chromosome analyses of POC (CHRPC / Chromosomes, Products of Conception/Fetal Loss) is a commonly performed method used to identify these common chromosome aneuploidies. Conventional chromosome analysis involves fibroblast cultures. Unfortunately, 20% of POC specimens fail to grow when cultured. A FISH method has been developed to analyze this subset of cases or to be used when fresh tissue is not available for full chromosome analysis.

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

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
POCF POC Aneuploidy Detection, FISH, Ts In Process

 

Result ID Test Result Name Result LOINC Value
52063 Result Summary 50397-9
52065 Interpretation In Process
54573 Result In Process
CG729 Reason For Referral 42349-1
CG730 Specimen 31208-2
52066 Source 31208-2
52067 Tissue ID No LOINC Needed
52068 Method 49549-9
55120 Additional Information 48767-8
53842 Disclaimer 62364-5
52069 Released By No LOINC Needed
Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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