Reveal® SNP microarray

With more than 11 years of experience in microarray testing, Integrated Genetics has performed over 230,000 microarrays to date resulting in a robust database to support variant interpretation.

Integrated Genetics’ 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.  

Reveal

Reveal SNP microarray - Prenatal: 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.

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Reveal SNP microarray - Pediatric: 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).

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Reveal SNP microarray - POC: detects chromosomal imbalances related to fetal loss. Can be performed directly on POC tissue without having to grow cells, optimizing success rate and turnaround time.

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Reveal SNP Microarray is a clinically validated, highly reliable test supported by clinical guidelines

In an initial study involving 50,000 prenatal microarray patients, it was determined SNP microarray was an effective technology and first-line test for prenatal diagnosis of patients. Microarray analysis detected cytogenetic abnormalities (when karyotype was normal) for both advanced maternal age (1.7%) and abnormal ultrasound findings (~4.3%). This was even greater when the ultrasound revealed a major ultrasound abnormality (~9.2%).

Table below demonstrates the additional yield for microarray after normal karyotype.

Table demonstrating the additional yield for microarray after normal karyotype

Comprehensive test menu and flexible testing options

Integrated Genetics 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:

Reveal Prenatal ordering pathway
Combination reflex testing available

Other testing options

In addition to diagnostic testing, we also offer: serum screening and noninvasive prenatal testing (NIPT, sometimes called NIPS or cell-free DNA), including the pioneering whole-genome NIPTcarrier screening, from comprehensive to single-gene; and hereditary cancer screening.

References

  1. Wapner RJ, Lese MC, Brynn L, et. al. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. N Engl J Med. 2012;No.367(23):2175-2184.
  2. American College of Obstetricians and Gynecologists. Prenatal diagnostic testing for genetic disorders. Practice Bulletin No. 162 (2016). Obstet Gynecol. doi: 10.1097/AOG.0000000000001405.
  3. American College of Obstetricians and Gynecologists. The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis. Committee Opinion No. 581 (2013). Obstet Gynecol. doi: 10.1097/01.AOG.0000438962.16108.d1.
  4. Yingjun X, Xiaojuan P, Yu D, Huiqun W, Huijuan S. Single Nucleotide Polymorphism-based Microarray Analysis for the Diagnosis of Hydatidiform Moles. Mol Med Rep. 2016; 14(1):137-144. doi: 10.3892/mmr.2016.5211.
  5. Manning M, and Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010; 12(11):742-5.
  6. Miller et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
  7. Shen Y, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010; 125:e727-35.
  8. Schwartz S, Burnside R, Gadi I, et al. The impact of microarray studies on prenatal diagnosis: Analysis of 50,000 prenatal samples and 15,000 POCs. Poster presented at: The 10th Philadelphia Prenatal Conference. Jun 6-9, 2018. Philadelphia, PA

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