Pediatric Testing

Genetic testing for pediatric developmental disorders can get complex; we want to help simplify this process for you and your patients. Our reports are designed to offer clinicians quality interpretations about abnormalities identified, and our level of customer service makes the testing process easy. Our standard microarray is performed routinely as a rapid test, so rapid results are delivered for all pediatric patients to help you practice more efficiently and for those pediatric cases where time is critical. Additionally, our microarray can be performed using a buccal swab specimen, allowing easier specimen collection for difficult-to-draw patients.1 We offer comprehensive testing services to help you with diagnostic testing for patients in your practice.

Information below about tests commonly utilized in pediatric 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 pediatric patients

Rapid microarray

Useful in identifying large and small chromosomal gains and losses, ranging in size from small microdeletion/duplication syndromes to trisomies. Whole genome coverage with higher density in regions of known syndromes and backbone to identify abnormalities in novel regions. Copy number alterations are FISH visualized. Can detect regions of absence of heterozygosity (AOH) that may be associated with imprinting disorders or autosomal recessive conditions. Will not detect balanced abnormalities. Microarray reported within 2-4 business days of specimen receipt; FISH results are reported within 7 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 7-10 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, ranging in size from small microdeletion/duplication syndromes to trisomies, in addition to the detection of balanced rearrangements identified by karyotype. Whole genome coverage with higher density in regions of known syndromes and backbone to identify abnormalities in novel regions. Copy number alterations are FISH visualized. Each test is reported independently to provide results as quickly as possible. Microarray reported within 2-4 business days of specimen receipt. Karyotype reported in 7 days.

Fragile X syndrome

Both FMR1 and FRAXE (AFF2) testing are available through our partner laboratories. FMR1 analysis is performed by detection of CGG repeat size by PCR amplification with sizing reported for expanded repeats. Methylation testing will be performed on any full expansions. FMR1 analysis reported within 15 days of specimen receipt.

Panels (sequencing, methylation, UPD)

We have numerous molecular panels available through our partner laboratories. Panels include syndrome-specific testing and panels designed based on phenotypic features. Single gene sequencing is also available. See our test menu for a list of selected common sequencing tests, or call to inquire if you have a specific test in mind that is not listed. Specimen requirements 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 or FMR1 analysis, is desired, a Pediatric Molecular Genetics Supplemental Test Requisition Form should be completed as well.

1 If submitting a buccal swab specimen for microarray, a secondary blood specimen may be recommended for follow-up by FISH visualization (at no extra charge) in a subset of patients.
×
×