Test Catalog

Test ID: CHRCB    
Chromosome Analysis, Congenital Disorders, Blood

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, 1-14No, (Bill Only)No
_M19Metaphases, 15-20No, (Bill Only)No
_MG19Metaphases, >20No, (Bill Only)No
_KTG2Karyotypes, >2No, (Bill Only)No
_STACAg-Nor/CBL StainNo, (Bill Only)No

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

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.

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

Cell Culture with Mitogens followed by Chromosome Analysis

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, Blood

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
multiple miscarriages