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|---|---|
| Email: | mcl@mayo.edu |
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| Values are valid only on day of printing | |
Test Id : CHRCB
Chromosome Analysis, Congenital Disorders, Blood
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
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.
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.
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.
This test is not appropriate for detecting acquired chromosome abnormalities. If this test is ordered with a reason for referral indicating a hematologic disorder, the test will be cancelled and CHRHB / Chromosome Analysis, Hematologic Disorders, Blood will be performed as the appropriate test.
A chromosomal microarray study (CMACB / Chromosomal Microarray, Congenital, Blood) is recommended as the first-tier test (rather than a congenital chromosome study) to detect clinically relevant gains or losses of chromosomal material for individuals with multiple anomalies not specific to well-delineated genetic syndromes, individuals with apparently nonsyndromic developmental delay or intellectual disability, and individuals with autism spectrum disorders.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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
A short description of the method used to perform the test
Cell Culture with Mitogens followed by Chromosome Analysis
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
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
Lists a shorter or abbreviated version of the Published Name for a test
Chromosomes, Congenital, Blood
Aliases
Lists additional common names for a test, as an aid in searching
Lists additional common names for a test, as an aid in searching
Ambiguous genitalia, chromosome analysis
Chromosomes, Cord Blood
Congenital karyotype analysis
Constitutional Study
Familial chromosome abnormality
Karyotype, Blood Stimulated
Klinefelter Syndrome
PUBS
Trisomy 13 (Patau Syndrome)
Trisomy 18 (Edward Syndrome)
Trisomy 21 (Down Syndrome)
Turner Syndrome
multiple miscarriages
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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.
This test is not appropriate for detecting acquired chromosome abnormalities. If this test is ordered with a reason for referral indicating a hematologic disorder, the test will be cancelled and CHRHB / Chromosome Analysis, Hematologic Disorders, Blood will be performed as the appropriate test.
A chromosomal microarray study (CMACB / Chromosomal Microarray, Congenital, Blood) is recommended as the first-tier test (rather than a congenital chromosome study) to detect clinically relevant gains or losses of chromosomal material for individuals with multiple anomalies not specific to well-delineated genetic syndromes, individuals with apparently nonsyndromic developmental delay or intellectual disability, and individuals with autism spectrum disorders.
Specimen Type
Describes the specimen type validated for testing
Describes the specimen type validated for testing
Whole blood
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| CG775 | Reason for Referral |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Green top (sodium heparin)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
3. Label specimen as whole blood.
Specimen Type: Cord whole blood
Container/Tube: Green top (sodium heparin)
Specimen Volume: As much as possible
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
3. Label specimen as cord blood.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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 in Special Instructions:
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
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
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
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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.
This test is not appropriate for detecting acquired chromosome abnormalities. If this test is ordered with a reason for referral indicating a hematologic disorder, the test will be cancelled and CHRHB / Chromosome Analysis, Hematologic Disorders, Blood will be performed as the appropriate test.
A chromosomal microarray study (CMACB / Chromosomal Microarray, Congenital, Blood) is recommended as the first-tier test (rather than a congenital chromosome study) to detect clinically relevant gains or losses of chromosomal material for individuals with multiple anomalies not specific to well-delineated genetic syndromes, individuals with apparently nonsyndromic developmental delay or intellectual disability, and individuals with autism spectrum disorders.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Chromosome analysis is appropriate for individuals with clinical features including infertility, multiple miscarriages, delayed puberty, ambiguous genitalia, amenorrhea, or individuals with clinical features suggestive of an aneuploidy syndrome, including Down syndrome, Turner syndrome, Klinefelter syndrome, Trisomy 13 syndrome, and Trisomy 18 syndrome.
A chromosomal microarray study (CMACB / Chromosomal Microarray, Congenital, Blood) is recommended as the first-tier test (rather than a congenital chromosome study) to detect clinically relevant gains or losses of chromosomal material for individuals with multiple anomalies not specific to well-delineated genetic syndromes, individuals with apparently nonsyndromic developmental delay or intellectual disability, and individuals with autism spectrum disorders. Chromosome analysis may be appropriate for this patient population if microarray has been performed with normal results. Some chromosome rearrangements are balanced (no gain or loss of material) and, therefore, not detectable by chromosomal microarray. In rare situations these rearrangements may interrupt gene functioning and have the potential to cause abnormal clinical features.
Limitations: A normal karyotype (46,XX or 46,XY with no apparent chromosome abnormality) does not eliminate the possibility of abnormal clinical features such as those caused by submicroscopic cytogenetic abnormalities, molecular mutations, and environmental factors (ie, teratogen exposure). Chromosomal mosaicism may be missed due to statistical sampling error (rare) and subtle structural chromosome abnormalities can occasionally be missed.
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.
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
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 abnormal results to the patient.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not appropriate for acquired hematologic disorders, including the following malignancies: chronic myelocytic leukemia, acute myelocytic leukemia, acute lymphocytic leukemia, chronic lymphocytic leukemia, lymphoma, and leukemia.
This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material for individuals with intellectual disability, developmental delay, autism, dysmorphic features, birth defects, behavior disorders, learning disability, or cognitive impairment.
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 blood 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
Recommendations for in-depth reading of a clinical nature
1. Manning M, Hudgins L, Professional Practice and Guidelines Committee: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010;12(11):742-745
2. 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
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;20:432-441
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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
Describes how the test is performed and provides a method-specific reference
The cytogenetic procedure to study cells from peripheral blood is designed to reduce the problems from the common interfering factors. A portion of the whole blood is transferred to a flask containing media and a cell mitogen. The cells are incubated for 66 to 72 hours at 37 degrees C. In the harvest process, the cells are exposed to colcemid, ethidium bromide, and hypotonic solution, and are fixed with glacial acetic acid and methanol. Metaphase cells are dropped onto microscope slides and routinely stained by G-banding. Other staining methods are employed as needed. Twenty metaphases are usually examined. In cases with suspected mosaicism, 30 or more metaphases are analyzed. In cases in which testing is ordered for confirmation of a known familial chromosome abnormality, an abbreviated study consisting of the analysis of 5 total metaphases may be performed. 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 or more digitized images of metaphases are stored in a computer-based imaging system and karyograms are made from 2 or more representative metaphases.(Dewald GW, Michels VV: Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin Obstet Gynecol 1986;29:865-885; Spurbeck JL, Carlson RO, Allen JE, Dewald GW: Culturing and robotic harvesting of bone marrow, lymph nodes, peripheral blood, fibroblasts, and solid tumors with in situ techniques. Cancer Genet Cytogenet 1988;32:59-66)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
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.
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.
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.
10 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Four weeks
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
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.
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 Regional Manager. 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.
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.
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.
CPT codes are provided by the performing laboratory.
88230, 88291- Tissue culture for Lymphocytes, Interpretation and report
88262 w/modifier 52-Chromosome analysis less than15 cells (if appropriate)
88262-Chromosome analysis with 15 to 20 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.
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 |
|---|---|---|
| CHRCB | Chromosomes, Congenital, Blood | 81862-5 |
| 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.
|
|---|---|---|
| 52366 | Result Summary | 50397-9 |
| 52368 | Interpretation | 69965-2 |
| 52367 | Result | 82939-0 |
| CG775 | Reason for Referral | 42349-1 |
| 52369 | Specimen | 31208-2 |
| 52370 | Source | 31208-2 |
| 52372 | Method | 85069-3 |
| 52371 | Banding Method | 62359-5 |
| 54630 | Additional Information | 48767-8 |
| 52373 | 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.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
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.
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.