Advanced Diagnostic Testing
With more than 11 years of experience in microarray testing, Labcorp has performed over 230,000 microarrays to date resulting in a robust database to support variant interpretation.
Labcorp’s Reveal SNP microarray has more than 2.6 million genomic markers and is constructed with dense probe coverage in regions of known genetic function to maximize detection of pathogenic variants. The array uses a combination of more than 1.9 million region-specific structural probes to detect copy number changes and ~750,000 SNP probes to detect copy number changes, copy neutral changes, triploidy and molar genotypes. Reveal SNP microarray has applications for pediatric (cord blood, peripheral blood, and buccal swab), prenatal (amniotic fluid and chorionic villus), and POC (fresh tissue and formalin-fixed paraffin-embedded) sample types utilizing the same array for all applications. This enables the reanalysis of data after delivery using pediatric cut-offs without the need for additional specimen, as well as the ability to apply findings between specimen types.
When a clinical phenotype does not fit a specific syndrome, microarray analysis can identify the etiology. Reveal will identify and characterize abnormalities currently detected by routine cytogenetics (with the exception of balanced chromosome rearrangements) as well as genetic changes that may be missed by standard karyotype.
Detects genomic imbalances related to congenital abnormalities, intellectual disabilities, miscarriage, and stillbirth. Can detect copy neutral changes associated with increased risk for autosomal recessive conditions, uniparental disomy (UPD), identity by descent (IBD) and molar genotypes.
Enhances the detection of chromosome abnormalities. Clinical Indications: Individuals with nonsyndromic congenital anomalies, dysmorphic features, developmental delay, intellectual disability, and/or autism spectrum disorders (ASD).
Labcorp can perform familial studies following an abnormal result via qPCR, chromosome analysis, FISH or microarray. Following an abnormal POC, we are also able to test chorionic villi or amniotic fluid samples, as well as cord blood samples in the nursery to evaluate future at-risk pregnancies and newborn.
Reveal can be ordered as a standalone test or it can run as a reflex to or concurrently with other tests, including FISH and chromosome analysis. Below is an example of a Reveal ordering pathway:
In addition to carrier screening, we also offer: serum screening and noninvasive prenatal screening (NIPS, sometimes called NIPT or cell-free DNA), including the pioneering whole-genome NIPS; diagnostic testing that can be used on prenatal and products of conception (POC) samples, as well as pediatric, cord blood or adult samples; and hereditary cancer screening.