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CombiMatrix Corp.
Industry Genetic testing
Headquarters Irvine, CA, USA
Key people
Mark McDonough (CEO), Scott Burell (CFO), Weslie Tyson (CMO)
Products CombiSNP Array Prenatal, CombiSNP for Miscarriage Analysis, CombiSNP for Pediatric and Postnatal Analysis
Services SNP Miscarriage Analysis for Recurrent Pregnancy Loss, Prenatal Analysis, Pediatric Analysis

CombiMatrix Corp. (NASDAQCBMX)[2] CombiMatrix is a clinical diagnostic laboratory specializing in cytogenomic testing for prenatal diagnosis, miscarriage analysis, and pediatric developmental disorders. As a full-scale cytogenetic and cytogenomic laboratory, CombiMatrix offers chromosomal microarray analysis, standard and customized FISH, and high resolution karyotyping to help clinicians better care for their patients.[3]

In 2012 CombiMatrix shifted its focus from providing oncology genetic testing to developmental testing. Their focus is cytogenomic miscarriage analysis, prenatal analysis and postnatal/pediatric analysis.[4][5]

CombiSNP Array

CombiMatrix uses the CombiSNP Array as their technology platform. SNP stands for Single nucleotide polymorphism probes. These probes allow for increased precision and greater diagnostic yield. This array contains more than 845,000 SNP markers covering both coding and non-coding human genome sequences. The median spatial resolution between probes is 1 Kb within gene rich regions and 5 Kb outside of gene-rich regions.[6]


  • Chromosome microarray and undiagnosed seizures in a pediatric patient. Dawson AJ, Mhanni AA, Booth FA, Seargeant L, Bernier D, Tomiuk M, Hartley JN, Strecker M, Hovanes K. Can J (Neurol Sci. 2014 Mar).[7]
  • Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome. Dasouki M, Roberts J, Santiago A, Saadi I, Hovanes K. Eur J Med Genet. (2014 Jan 22)[8]
  • Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG. Gene. (2014 Feb 1)[9]
  • Microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene. Sofos E, Pescosolido M, Quintos JB, Abuelo D, Gunn S, Hovanes K, Morrow E, Shur N. A (2012)
  • Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature. Dasouki MJ, Youngs EL, Hovanes K.. (Curr Genomics. 2011)
  • Inversion and deletion of 16q22 defined by array CGH, FISH and RT-PCR in a patient with AML. Dawson AJ, Bal S, McTavish B, Tomiuk B, Schroedter I, Ahsanuddin AN, Seftel MD, Vallente R, Mai R, Cotter PH, Hovanes K, Gorre M, Gunn SR. (Cancer Genet. 2011)
  • The 3q29 microdeletion syndrome: Report of three new unrelated patients and in silicon "RNA binding" analysis of the 3q29 region. Dasouki MJ, Lushington GH, Hovanes K, Casey J,1 Gorre M. (Am J Med Genet. 2011)
  • Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. Wang JC, Ross L, Mahon LW, Sahoo T. (Eur J Hum Genet. 2014 Aug 13)
  • Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Wang JC, Sahoo T, et al. (Genet Med. 2014 Aug 7)
  • Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. Wang BT, Chong TP, Boyar FZ, Sahoo T, et al. (Mol Cytogenet. 2014 May 22)
  • Evaluating formalin-fixed and paraffin-embedded cancer tissues for somatic copy number variations and copy-neutral LOH using Illumina’s CytoSNP 850K array. Sahoo T. (Cancer Genomics Consortium Annual Meeting, Chicago, IL, August 2014.)
  • Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements. Sahoo T (Eur J Hum Genet. 2014 Apr 9)


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