Test Catalog

Test ID: CHFXC    
Chromosome Analysis, Congenital Disorders, Fixed Cells

Useful For 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.

Test IDReporting NameAvailable SeparatelyAlways Performed
_M15AMetaphases, 1-14NoNo
_M19Metaphases, 15-20NoNo
_MG19Metaphases, >20NoNo
_KTG2Karyotypes, >2NoNo
_STACAg-Nor/CBL StainNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test only includes a charge for professional interpretation of results and does not include charges for analysis.


Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells for this test. 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. See the Method Description for specific details.


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 CHFXH / Chromosome Analysis, Hematologic Disorders, Fixed Cells will be performed as the appropriate test:

-Acute lymphocytic leukemia

-Acute myelocytic leukemia

-Chronic lymphocytic leukemia

-Chronic myelocytic leukemia




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

Method Name A short description of the method used to perform the test

Chromosome Analysis on Fixed Cells

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Chromosomes, Congenital Fixed Cells

Aliases 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
Trisomy 13 (Patau Syndrome)
Trisomy 18 (Edward Syndrome)
Trisomy 21 (Down Syndrome)
Turner Syndrome