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HelpTest Code LAB3432 Chromosome Analysis, Congenital Disorders, Blood
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
Method Name
Cell Culture with Mitogens followed by Chromosome Analysis
Reporting Name
Chromosomes, Congenital, BloodSpecimen Type
Whole bloodShipping 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.
Specimen Minimum Volume
2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Ambient (preferred) | |
| Refrigerated | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Cautions
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° C) may kill cells and interfere with attempts to culture cells
Day(s) Performed
Monday through Friday
Report Available
10 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| 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 |
NY State Approved
YesSecondary ID
35248Forms
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: