Additionally, in accordance to the ACMG guidelines for reporting secondary findings in clinical exome sequencing (PMID: 27854360), pathogenic and likely pathogenic variants in the following genes are reported if consent is indicated on the Test Request Form: ACTA2, ACTC1, APC, APOB, ATP7B, BMPR1A, BRCA1, BRCA2, CACNA1S, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RET, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TP53, TPM1, TSC1, TSC2, VHL, and WT1. It is encouraged to further ascertain the genotype-phenotype correlation and research to establish the efficacy of intervention in asymptomatic patients with a reported variant in any of the associated genes. This information is only applicable for the whole exome sequencing test and consent must be provided by the patient to obtain this information.
Result interpretation is based on currently available information in the medical literature, research, and scientific databases. Because the literature, medical and scientific knowledge are constantly changing, new information that becomes available in the future may replace or add to the information that Igenomix used to interpret the results. Re-analysis of variants in previously issued reports considering new evidence is not routinely performed but is available upon request.