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6. Laboratories must remain vigilant with current scientific literature and guideline updates to ensure MGPs remain current. 7. Laboratories should ensure that a HBOC diagnostic testing service (internal or external testing laboratory referral) provides analysis of intronic regions known to contain recurrent PVs (e.g., BRCA1 c.213-11T>G [37]). 8. Reportable variants detected in genes with associated pseudogenes (for example, CHEK2 and PMS2) must be checked for specificity prior to reporting. |
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