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23220 Chromosome Analysis, Congenital Disorders, Blood (CHRCB)

Chromosome Analysis, Congenital Disorders, Blood (CHRCB)
Test Code: CAHRSO
Synonyms/Keywords
​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
Useful For
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements.

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 Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​ ​ ​ ​ ​ Submit only 1 of the following specimens:​
Whole Blood​ ​Sodium-heparin Green Top Tube (GTT) ​ ​4 mL ​2 mL ​
​Cord whole blood Sodium-heparin Green Top Tube (GTT)​ ​ As much as possible​ ​ ​
Collection Processing Instructions
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.
 
Blood:
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.
 
Cord whole blood:
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 Stability Information
Specimen Type Temperature
Whole Blood ​Sodium-heparin ​Ambient (preferred)
​ ​Refrigerated
Rejection Criteria

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

Interference

​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, mental retardation, 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

Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available Methodology/Instrumentation
​Mayo Clinic Laboratories
Monday through Friday
 ​10 days
Cell Culture with Mitogens followed by Chromosome Analysis
Reference Lab
Mayo Clinic Laboratories
Test 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 Range Information
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.
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​​88291 ​ 1​ Interpretation and report ​
​88230 ​ ​1 ​Culture 01 ​
88262 ​ ​1 ​Metaphases, 1-14 ​as needed
88262 ​ ​1 ​Metaphases, 15-20 ​as needed
​88262 ​ ​1 ​Metaphases, >20 ​as needed
​88285 ​ ​1 ​Metaphases, >20 ​as needed
​88280 ​ ​1 Karyotypes, >2 ​as needed
​88283 ​ ​1 ​​Ag-Nor/CBL Stain ​as needed
Synonyms/Keywords
​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
Ordering Applications
Ordering Application Description

​Cerner
​​Chrom. Congenital, Bld (CHRCB)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​ ​ ​ ​ ​ Submit only 1 of the following specimens:​
Whole Blood​ ​Sodium-heparin Green Top Tube (GTT) ​ ​4 mL ​2 mL ​
​Cord whole blood Sodium-heparin Green Top Tube (GTT)​ ​ As much as possible​ ​ ​
Collection Processing
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.
 
Blood:
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.
 
Cord whole blood:
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 Stability Information
Specimen Type Temperature
Whole Blood ​Sodium-heparin ​Ambient (preferred)
​ ​Refrigerated
Rejection Criteria

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

Interference

​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, mental retardation, 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

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

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.

Reference Range Information
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.
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available Methodology/Instrumentation
​Mayo Clinic Laboratories
Monday through Friday
 ​10 days
Cell Culture with Mitogens followed by Chromosome Analysis
Reference Lab
Mayo Clinic Laboratories
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​​88291 ​ 1​ Interpretation and report ​
​88230 ​ ​1 ​Culture 01 ​
88262 ​ ​1 ​Metaphases, 1-14 ​as needed
88262 ​ ​1 ​Metaphases, 15-20 ​as needed
​88262 ​ ​1 ​Metaphases, >20 ​as needed
​88285 ​ ​1 ​Metaphases, >20 ​as needed
​88280 ​ ​1 Karyotypes, >2 ​as needed
​88283 ​ ​1 ​​Ag-Nor/CBL Stain ​as needed
For most current information refer to the Marshfield Laboratory online reference manual.