|Test Code||CHMAB / CMACB-M|
|Test||CHROMOSOMAL MICROARRAY, CONGENITAL, BLOOD|
|Methodology||Chromosomal Microarray, Blood|
|Description||First tier, postnatal test for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as recommended by the American College of Medical Genetics (ACMG).
An appropriate follow-up test for individuals with unexplained developmental delay or intellectual disability, autism spectrum disorders, or congenital anomalies with a previously normal conventional chromosome study
Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods such as conventional chromosome and FISH studies
Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray.
Assessing regions of homozygosity related to uniparental disomy or identity by descent.
|Specimen||3 mLs (2 mLs minimum) Whole Blood from a Sodium Hep Green Top and an EDTA Lavender Top, Room temperature.
Invert several times to mix blood
** Both a whole blood EDTA and a whole blood sodium heparin specimen are required.
|Reference Values||An interpretive report will be provided|
|Analytic Time||10 to 12 Days|
|Day(s) Test Set Up||Samples processed Monday through Sunday. Results reported Monday through Friday; 9 a.m.- 6 p.m.|