Test Definition: CHRCB

Chromosome Analysis, Congenital Disorders,

Blood
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Overview

Useful For
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced
rearrangements

Reflex 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
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
testing 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
• Informed Consent for Genetic Testing
• Informed Consent for Genetic Testing (Spanish)

Method Name
Cell Culture with Mitogens followed by Chromosome Analysis

NY State Available
Yes

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 Test Definition: CHRCB
Chromosome Analysis, Congenital Disorders,
Blood
___________________________________________________
Specimen

Specimen Type
Whole blood

Shipping Instructions
Advise Express Mail or equivalent if not on courier service.

Necessary Information
Provide a reason for testing 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.

Specimen Required
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 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.

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

2 mL

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

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 Test Definition: CHRCB
Chromosome Analysis, Congenital Disorders,
Blood
___________________________________________________
Specimen Stability Information

Specimen Type Temperature Time Special Container

Whole blood Ambient (preferred)
Refrigerated

Clinical & Interpretive

Clinical Information
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
An interpretive report will be provided.

Interpretation
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

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 Test Definition: CHRCB
Chromosome Analysis, Congenital Disorders,
Blood
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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
1. McKinlay Gardner RJ, Amor DJ, eds. Amor, Gardner and Sutherland's Chromosome Abnormalities and Genetic
Counseling, 5th ed. Oxford Monographs on Medical Genetics, 2018
2. 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
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):432-441
4. Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent
pregnancy loss: a committee opinion. Fertil Steril. 2012;98(5):1103-1111
5. Committee opinion no. 605: primary ovarian insufficiency in adolescents and young women. Obstet Gynecol.
2014;124(1):193-197

Performance

Method Description
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 harvesting 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

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 Test Definition: CHRCB
Chromosome Analysis, Congenital Disorders,
Blood
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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.(Arsham MS, Barch MJ, Lawce HJ, eds. The
AGT Cytogenetics Laboratory Manual. 4th ed. John Wiley and Sons; 2017; 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[1]:59-66)

PDF Report
No

Day(s) Performed
Monday through Friday

Report Available
10 days

Specimen Retention Time

4 weeks

Performing Laboratory Location

Rochester

Fees & Codes

Fees
 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
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

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

Test ID Test Order Name Order LOINC® Value

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 Test Definition: CHRCB
Chromosome Analysis, Congenital Disorders,
Blood
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CHRCB Chromosomes, Congenital, Blood 81862-5

Result ID Test Result Name Result LOINC® Value

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

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