Time is precious when a baby is in the NICU and answers are needed. Historically, fast genetic tests provided limited information, and genetic tests that provided answers about many conditions pertinent in a NICU took too long to help with decision-making. We offer comprehensive chromosomal testing with rapid turn-around time, allowing decisions to be made in a reasonable time frame for critically ill newborns.

Information below about tests commonly utilized in newborn patients highlights the utility of ordering each test in this population. For more comprehensive information about each test, follow the links below or see our complete test menu.

Common testing for newborns

Rapid microarray

Useful in identifying large and small chromosomal gains and losses, including trisomies and microdeletion/duplication syndromes. Can detect regions of absence of heterozygosity (AOH) that may be associated with imprinting disorders or autosomal recessive conditions. Will not detect balanced abnormalities. Reported within 2-4 business days of specimen receipt; FISH results are reported within 7-14 days of abnormal microarray report.

Standard karyotype

Useful in identifying large structural abnormalities (5-10 Mb or larger), both balanced and unbalanced. Useful in conjunction with microarray to identify balanced abnormalities that microarray is not designed to detect. Standard karyotype reported in 7-14 days. STAT preliminary results are not available for this test. If appropriate, you may consider microarray for rapid results.

Additional Testing

We have numerous molecular tests, including sequencing, available through our partner laboratories. See our test menu for a list of selected common tests, or call to inquire if you have a specific test in mind that is not listed.

Ordering

To order testing for your patients, you may complete a test requisition form or log in to our secure online portal.