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Test Catalog

Test ID: CMS    
Chromosome Analysis, for Congenital Disorders, Blood

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


Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of a wide variety of congenital conditions


Identification of congenital chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

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 HBL / Chromosome Analysis, Hematologic Disorders, Blood will be performed as the appropriate test:


-Acute lymphocytic leukemia

-Acute myelocytic leukemia

-Chronic lymphocytic leukemia

-Chronic myelocytic leukemia



Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Includes 2 banded karyograms, analysis of 20 or more metaphases, and other techniques when required.

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Chromosomes, Congenital, Blood

Aliases Lists additional common names for a test, as an aid in searching

Ambiguous genitalia, chromosome analysis
Chromosome Analysis, For Congenital Disorders, Blood
Chromosome rearrangement
Chromosome Studies
Chromosomes, Cord Blood
Congenital Blood Disorders
Congenital karyotype analysis
Constitutional Study
Down Syndrome
Familial chromosome abnormality
High Resolution
Karyotype, Blood Stimulated
Klinefelter Syndrome
Klinefelter's Disease
Trisomy 13 (note to lab)
Trisomy 18 (note to lab)
Trisomy 21 (note to lab)
Turner Syndrome