Test Catalog

Test Id : NADF

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Newborn Aneuploidy Detection, FISH, Blood

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial 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
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] 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.

Method Name
A short description of the method used to perform the test

Fluorescence In Situ Hybridization (FISH)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Newborn Aneuploidy Detection, FISH

Aliases
Lists additional common names for a test, as an aid in searching

Ambiguous Genitalia

FISH For Newborn Aneusomy

Trisomy 13 (Patau Syndrome)

Trisomy 18 (Edwards Syndrome)

Trisomy 21 (Down Syndrome)

Turner Syndrome

XXY, XXX, or XYY

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] 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.

Specimen Type
Describes the specimen type validated for testing

Whole 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.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
CG694 Reason for Referral

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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)

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] 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.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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 in 1000 have a major chromosome anomaly, of which 6.5 in 1000 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 fluorescence in situ hybridization (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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

When no significant abnormalities are detected by the targeted fluorescence in situ hybridization (FISH) probes, a simple descriptive interpretation is provided. When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, recommendations for additional testing, and contact information for the laboratory if there are additional questions.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The use of these probes has been approved by the US Food and Drug Administration as a stand-alone test. However, we recommend that a complete chromosome analysis (CHRCB / Chromosome Analysis, Congenital Disorders, Blood) or chromosomal microarray (CMACB / Chromosomal Microarray, Congenital, Blood) be performed in conjunction with this test. In cases where the fluorescence in situ hybridization (FISH) analysis is normal, a chromosome analysis or chromosomal microarray allows for the potential identification of more complex abnormalities and the less common numeric abnormalities of other chromosomes. In cases where the FISH study is abnormal, chromosome analysis can determine whether the abnormality is due to aneuploidy or a complex structural abnormality, allowing for recurrence risk information for the family.

 

Low levels of mosaicism involving chromosomes 13, 18, 21, X, or Y may not be detected by this procedure.

 

Interfering factors:

-Cell lysis caused by forcing the blood quickly through the needle

-Use of an improper anticoagulant or improperly mixing the blood with the anticoagulant

-Excessive transport time

-Inadequate amount of specimen may not permit adequate analysis

-Improper packaging may result in broken, leaky, and contaminated specimen during transport

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Jalal SM, Law ME. Detection of newborn aneuploidy by interphase fluorescence in situ hybridization. Mayo Clin Proc. 1997;72(8):705-710

2. Cassidy SB, Allanson JE: Management of Genetic Syndromes. 2nd ed. John Wiley and Sons; 2005:557

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(5):432-444

4. Carroll J, Wigby K, Murray S. Genetic testing strategies in the newborn. J Perinatol. 2020:40(7):1007-1016

Method Description
Describes how the test is performed and provides a method-specific reference

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 independently analyze 50 interphase nuclei (100 total). Aneuploidy of chromosomes 13, 18, 21, X, and Y is reported.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 4 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

4 weeks

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

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® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
NADF Newborn Aneuploidy Detection, FISH 57318-8
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
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
51936 Released By 18771-6
53862 Disclaimer 62364-5

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | PHP Pdf | CMS Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports