Does the Color test include large deletions and duplications?

Does the Color test include large deletions and duplications?

Yes. Color uses next-generation sequencing (NGS) technology and a dedicated algorithm to test large deletions and duplications, also known as large (chromosomal) rearrangements. Our white paper shows how Color accurately detected a number of such cases in a blinded validation. These cases included deletions and duplications as small as a single exon, as well as the heterozygous deletion of an entire gene. In addition, if a pathogenic or likely pathogenic "Copy Number Variation" (CNV) is detected, it will be confirmed by a secondary technology.

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