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Table 2 Categories of test results for test "9497"

From: EHR based Genetic Testing Knowledge Base (iGTKB) Development

• NO CHARGE Test canceled, ordered in duplicate with order number 6606002374.
• None of the listed mutations were detected, indicating a revised risk of 1/507 (see interpretation). Intron 8 poly T alleles are 7T/7T.
• None of the listed mutations were detected.
• One copy each of the delta F508 and A349V mutation in exons 10 and 7 respectively, was identified.
• One copy each of the deltaF508 and 3905insT mutations in exons 10 and 20 respectively, was identified.
• One copy of the R117C mutation in exon 4 was identified.
• One copy of the R117H mutation in exon 4 was identified. Intron 8 poly T alleles are 7T/7T.
• One copy of the R334W mutation in exon 7 was identified.
• One copy of the R553X mutation in exon 11 was identified.
• One copy of the deletion of exons 2-3 was identified.
• One copy of the deltaF508 mutation in exon 10 was identified.
• Test canceled. Testing already performed on the patient in past thus testing is canceled per genetic counselor Vickie. NO CHARGE
• This is a testing accession
• Two copies of the S549R(T>G) mutation in exon 11 were identified.
• Two copies of the deltaF508 mutation in exon 10 were identified.