Neonatal Testing

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.

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. STAT preliminary results available in 3 days with final results in 7 days.

5-cell karyotype + rapid microarray bundle

This rapid microarray with limited karyotype study is useful to identify large and small chromosomal gains and losses, including trisomies and microdeletion/duplication syndromes, in a rapid manner in addition to the detection of balanced rearrangements identified by karyotype. Each test is reported independently to provide results as quickly as possible. Array reported within 2-4 business days of specimen receipt. STAT preliminary karyotype results available in 3 days with final results in 7 days.

Panels (sequencing, methylation, UPD)

We have numerous sequencing panels available through our partner laboratories. See our test menu for a list of the most common sequencing tests, or call to inquire if you have a specific test in mind that is not listed. Specimen requirements and turnaround times are listed for each test.

Ordering

To order testing for your patients, you may complete a Pediatric Cytogenetics/Molecular Cytogenetics Test Requisition Form or log in to our secure online portal. If additional testing, such as sequencing, is desired, a Pediatric Molecular Genetics Supplemental Test Requisition Form may be completed as well.

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