Test ID: CMS
Chromosome Analysis, for Congenital Disorders, Blood
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Diagnosis of a wide variety of congenital conditions
Identification of congenital chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
This test is not appropriate for acquired disorders. If this test is ordered for any of the following diseases, or for any other hematological acquired disorder, the test will be cancelled and HBL/8537 Chromosome Analysis, Hematologic Disorders, Blood will be performed as the appropriate test:
-Acute lymphocytic leukemia
-Acute myelocytic leukemia
-Chronic lymphocytic leukemia
-Chronic myelocytic leukemia
-Leukemia
-Lymphoma
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Includes 2 banded karyograms, analysis of 20 or more metaphases, and other techniques when required.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Chromosome Analysis, For Congenital Disorders, Blood
Chromosome rearrangement
Chromosome Studies
Chromosomes, Cord Blood
Congenital Blood Disorders
Congenital karyotype analysis
Constitutional Study
Down Syndrome
Familial chromosome abnormality
High Resolution
Karyotype, Blood Stimulated
Klinefelter Syndrome
Klinefelter's Disease
Trisomy 13 (note to lab)
Trisomy 18 (note to lab)
Trisomy 21 (note to lab)
Turner Syndrome
PUBS
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex 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.
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, submit a Cytogenetics/AFP Congenital Disorders Request Form (Supply T238) with the specimen.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Green top (sodium heparin)
Specimen Volume: 5 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.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| WB Sodium Heparin | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Chromosome abnormalities cause a wide range of disorders associated with birth defects and congenital diseases. Congenital chromosome studies are done on blood for a wide variety of indications including mental retardation, failure to thrive, possible Down syndrome, delayed puberty or primary amenorrhea (Turner syndrome), frequent miscarriages, infertility, multiple congenital anomalies, sex determination, and many others.
A chromosomal microarray study (CMAC/61835 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.
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.
46,XX or 46,XY. No apparent chromosome abnormality.
An interpretive 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 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
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.
Some congenital disorders require special culture methods:
-For Bloom syndrome, order SCE/926 Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood
It is important to provide the suspected diagnosis and clinical features to ensure the most appropriate type of cytogenetic study is performed.
Interfering factors
-Technical:
- Cell lysis caused by forcing the blood quickly through the needle
- Use of an improper anticoagulant (sodium heparin is best) or improperly mixing the blood with the anticoagulant
- Excessive transport time
- Inadequate amount of blood (we recommend at least 5 mL for adults, 2 mL for children, and 1 mL for infants)
- Exposure of the specimen to temperature extremes
-Biological:
- T lymphocytes that do not respond to mitogens used to stimulate T cells to undergo mitosis (rare)
- Chromosomal mosaicism may be missed due to statistical sampling error (rare)
- Subtle structural chromosome abnormalities can occasionally be missed
Clinical Reference Provides recommendations for further 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. Dewald GW: Modern methods of chromosome analysis and their application in clinical practice. In Clinical Laboratory Annual. Vol 2. Edited by HA Homburger, JG Batsakis. Appleton-Century-Crofts, 1983, pp 1-29
3. Barch MJ, Knutsen T, Spurbeck JL: The AGT Cytogenetics Laboratory Manual. Third edition. 1997
Method Description 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 fixed with glacial acetic acid and methanol. Metaphase cells are dropped onto microscope slides and routinely stained by G-banding, but other staining methods are employed as needed. Twenty metaphases are examined. In cases with suspected mosaicism, 30 or more metaphases are analyzed. 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 Ostet 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)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
88230-Tissue culture for Lymphocytes
88291-Interpretation and report
88299-Unlisted cytogenetic study (Refer to patient report to apply the appropriate CPT code below in place of this unlisted cytogenetic study CPT code)
Based on the total number of cells analyzed and counted, MML would recommend the following:
Chromosome analysis with less than 5 cells; CPT Code 88261 w/ modifier 52
Chromosome analysis with 5 to 14 cells; CPT Codes 88261, 88285
Chromosome analysis with 15 to 19 cells; CPT Code 88262
Chromosome analysis with 20 to 25 cells; CPT Code 88264
Chromosome analysis with more than 25 cells; CPT Codes 88264, 88285
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 16083 | Specimen | 31208-2 |
| 16330 | Specimen ID | N/A |
| 16785 | Source | N/A |
| 16084 | Order Date | N/A |
| G_37 | Reason For Referral | 42349-1 |
| 16088 | Method | In Process |
| 50463 | Banding Methods | 62359-5 |
| 16090 | Results | 35129-6 |
| 16091 | Interpretation | 69965-2 |
| 16092 | Amendment | In Process |
| 16093 | Consultant | N/A |
| 16094 | Report Date | N/A |
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