Alliance Laboratory: GeneDx

GeneDx, an OPKO Health company, provides genetic testing for rare hereditary disorders and has been a leader in genetic testing since 2000. GeneDx was founded by Sherri Bale, Ph.D., FACMG, and John Compton, Ph.D., who previously performed genetic testing for rare disorders at the National Institutes of Health (NIH). GeneDx offers sequencing and deletion/duplication testing for inherited cardiac disorders, mitochondrial disorders, neurological disorders, hereditary cancer syndromes, and other rare genetic disorders.

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Genetic Testing Expertise

Sherri Bale, Ph.D., FACMG, and John Compton, Ph.D., worked on identifying the genetic causes for rare disorders at the National Institute of Health (NIH). In 2000, Dr. Bale and Dr. Compton founded GeneDx, a laboratory that specializes in genetic testing for rare disorders. Both are widely recognized for their expertise and work in the genetics community, and Dr. Bale has authored ACMG guidelines on interpreting sequence variants and clinical laboratory standards for next-generation sequencing.

  • Sherri Bale, Ph.D., FACMG – Managing Director of GeneDx, author of ACMG Guidelines
  • John Compton, Ph.D. – Consultant


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GeneDx Testing Methodologies

Exon Array CGH

Comparative genomic hybridization (CGH) is utilized to identify exonic deletions or duplications as small as 250-500 bp.

Next-Generation Sequencing

Targeted regions are sequenced on either an Illumina MiSeq or HiSeq. Bidirectional sequences are assembled and analyzed for sequence variants using a customized bioinformatic analysis tool.

Whole-Genome Chromosomal Microarray

CGH and single nucleotide polymorphism (SNP) arrays for analyzing copy number variants (CNVs) and uniparental disomy (UPD). The array detects CNVs of >200 kb, on average, across the entire unique sequence of the human genome and between 500 bp to 15 kb in more than 220 targeted regions.

Any mutation that is detected is confirmed by repeat analysis using Sanger Sequencing, qPCR or another appropriate method.