Test Catalog

Test Id : CHRTI

Order This Test

Chromosome Analysis, Skin Biopsy

Download
Overview

Test Catalog

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

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities

 

Subsequent chromosome analysis when results from peripheral blood are inconclusive

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
_M15A Metaphases, 1-14 No, (Bill Only) No
_M19 Metaphases, 15-20 No, (Bill Only) No
_MG19 Metaphases, >20 No, (Bill Only) No
_KTG2 Karyotypes, >2 No, (Bill Only) No
_STAC Ag-Nor/CBL Stain 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 cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

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

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

Cell Culture followed by Chromosome Analysis

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

Chromosomes, Skin Biopsy

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

Chromosome Analysis, Skin Biopsy

Chromosome Analysis, Tissue Biopsy

Karyotype, Skin Biopsy

Karyotype, Tissue Biopsy

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

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

Specimen Type
Describes the specimen type validated for testing

Tissue

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

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.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
CG768 Reason for Referral

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

Specimen Type: Skin biopsy

Container/Tube: Sterile container with sterile RPMI transport media, Ringer's solution, or normal saline-RPMI transport media (T095-Petri dish is not needed for this test).

Specimen Volume: 4 mm diameter

Collection Instructions:

1. Wash biopsy site with an antiseptic soap.

2. Thoroughly rinse area with sterile water.

3. Do not use alcohol or iodine preparations.

4. A local anesthetic may be used.

5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.

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. The following documents are available:

-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. The minimum volume is sufficient for one attempt at testing.

4-mm punch biopsy

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
Tissue Refrigerated (preferred)
Ambient

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

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities

 

Subsequent chromosome analysis when results from peripheral blood are inconclusive

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

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

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

Chromosomal abnormalities cause a wide range of disorders associated with birth defects and congenital diseases. Usually, the abnormalities can be demonstrated in peripheral blood, which is readily available. Chromosome analysis on skin fibroblasts may be indicated when the results from peripheral blood are inconclusive or in clinical circumstances such as suspected cases of chromosome mosaicism, confirmation of new chromosome disorders, or some dermatological disorders.

 

Subtle structural chromosomal anomalies can occasionally be missed.

 

Chromosomal mosaicism may be missed due to statistical sampling error (rare).

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 interpretative report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

When interpreting results, the following factors need to be considered:

-Some chromosome abnormalities are balanced (no apparent gain or loss of genetic material) and may not be associated with birth defects. However, balanced abnormalities often cause infertility and, when inherited in an unbalanced fashion, may result in birth defects in the offspring.

-A normal karyotype (46,XX or 46,XY with no apparent chromosome abnormality) does not eliminate the possibility of birth defects such as those caused by submicroscopic cytogenetic abnormalities, molecular mutations, and environmental factors (ie, teratogen exposure).

 

It is recommended that a qualified professional in Medical Genetics communicate all results to the patient.

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

Interfering factors:

-Transport time should not exceed 2 days.

-Inadequate amount of fluid may not permit adequate analysis.

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

-Exposure of the specimen to temperature extremes (freezing or > 30 degrees C) may kill cells and interfere with attempts to culture cells.

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

1. Gersen S, Keagle M. The Principles of Clinical Cytogenetics. Springer; 2013

2. Azcona C, Bareille P, Stanhop R: Lesson of the week: Turner's syndrome mosaicisim in patients with a normal blood lymphocyte karyotype. BMJ 1999;318:856-857

3. Woods CG, Bankier A, Curry J, et al: Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J Med Genet 1994;31:694-701

4. Ribeiro Noce T, de Pina-Neto JM, Happle R: Phylloid pattern of pigmentary disturbance in a case of complex mosaicism. Am J Med Genet 2001;98:145-147

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

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

The specimen is cut into small pieces and treated with enzymes. The tissue is then placed into tissue culture dishes with Chang and MEM-alpha-medium containing 10% fetal bovine serum and antibiotics to establish a fibroblast culture. The fibroblasts are exposed to ethidium bromide, colcemid, and hypotonic solution, and fixed with glacial acetic acid and methanol. Metaphase preparations are routinely stained by G-banding, but other staining methods are frequently employed as needed. At least 20 metaphases are examined. Minimal evidence for the presence of an abnormality is defined as 2 or more metaphases with the same structural abnormality or chromosome gain (trisomy), or 3 or more metaphases lacking the same chromosome. Five to 10 metaphases are captured using a computer-based imaging system and karyograms are prepared from 2 or more representative metaphases.(Dewald GW: Chromosome study of autopsy tissue. In: Ludwig J, ed. Current Methods of Autopsy Practice. 2nd ed. WB Saunders Company; 1979:155-159)

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.

23 to 24 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. This test 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.

88233, 88291- Tissue culture for skin/biopsy, Interpretation and report

88262 w/modifier 52-Chromosome analysis less than 15 cells(if appropriate)

88262-Chromosome analysis with 15 to 120 cells (if appropriate)

88262, 88285-Chromosome analysis with greater than 20 cells (if appropriate)

88280-Chromosome analysis, greater than 2 karyotypes (if appropriate)

88283-Additional specialized banding technique (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
CHRTI Chromosomes, Skin Biopsy 62353-8
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.
52311 Result Summary 50397-9
52313 Interpretation 69965-2
52312 Result 82939-0
CG768 Reason for Referral 42349-1
52314 Specimen 31208-2
52315 Source 31208-2
52317 Method 85069-3
52316 Banding Method 62359-5
54642 Additional Information 48767-8
52318 Released By 18771-6

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 | 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