Sequenom Laboratories Lab Report 3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266 GENOME CLIA #: 05D2015356 CAP #: 7527138 FINAL REPORT Ordering Provider: XXXX, XXXX Patient: XXXX, XXXX Provider Location: XXXXX DOB: XX/XX/XXXX Provider Phone: 555-555-5555 Patient ID: 12345-01234 Date Ordered: XX/XX/XXXX Specimen: 0123456789 Date Collected: XX/XX/XXXX Referral Clinician: XXXX, XXXX Date Received: XX/XX/XXXX Lab Director: XXXX, XXXX Order ID: 12345-01234 Date Reported: XX/XX/XXXX 00:00 PM PT Positive Test Result Trisomy 7 Lab Director’s Comments This specimen showed an increased representation of chromosome 7, suggestive of trisomy 7. Genetic counseling (CPM) is likely. Chromosome 7 is known to be imprinted. Therefore, subsequent trisomy rescueE in fetal tissue carries event are desired. Please refer to the “Performance” and “Limitations of the Test” sections of this laboratory report for additional information. Fetal Fraction: 7% L Chr7Chr7 P Trisomy Trisomy q21.1 q21.3 q31.1 q31.3 q33 q35 p22 p15.3 p15.1 p13 p11.2 q11.1 q11.22 q11.23 q21.2 q22 q31.2 q32 q34 q36 p21 p15.2 p14 p12 p11.1 q11.21 M An approximate 159.00Mb gain of chromosomeA 7 material was observed, suggestive of trisomy 7. S Sequenom® and MaterniT™ are trademarks of Sequenom. ©2015 Sequenom Laboratories. 34-40500R1.0 0715 MaterniT™ GENOME Lab Report Page 1 of 4 XXXX, XXXX Order ID: 12345-01234 Sequenom Laboratories Lab Report 3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266 GENOME CLIA #: 05D2015356 CAP #: 7527138 FINAL REPORT Ordering Provider: XXXXX, XXXXX Patient: XXXXX, XXXXX Provider Location: XXXXX DOB: XX/XX/XXXX Provider Phone: 555-555-5555 Patient ID: 12345-01234 Date Ordered: XX/XX/XXXX Specimen: XXXXX Date Collected: XX/XX/XXXX Referral Clinician: XXXXX, XXXXX Date Received: XX/XX/XXXX Lab Director: XXXXX, XXXXX Order ID: 12345-01234 Date Reported: XX/XX/XXXX 1:00 PM PT Result Table Content Result AUTOSOMAL ANEUPLOIDIES Trisomy 21 (Down syndrome) Negative Trisomy 18 (Edwards syndrome) Negative Trisomy 13 (Patau syndrome) Negative Other autosomal aneuploidies Positive SEX CHROMOSOME ANEUPLOIDIES E Fetal sex Consistent with female Monosomy X (Turner syndrome) Negative XYY (Jacobs syndrome) L Negative XXY (Klinefelter syndrome) Negative XXX (Triple X syndrome) Negative GENOME-WIDE COPY NUMBER VARIANTS ≥7 MbP Gains/Losses ≥7 Mb Negative SELECT MICRODELETIONS 22q11 deletion (associated with DiGeorge syndrome) Negative 15q11 deletion (associated with Prader-Willi / Angelman syndrome) Negative 11q23 deletion (associated with Jacobsen syndrome) Negative 8q24 deletion (associated with Langer-Giedion syndrome) M Negative 5p15 deletion (associated with Cri-du-chat syndrome) Negative 4p16 deletion (associated with Wolf-Hirschhorn syndrome) Negative 1p36 deletion syndrome A Negative S Sequenom® and MaterniT™ are trademarks of Sequenom. ©2015 Sequenom Laboratories. 34-40500R1.0 0715 MaterniT™ GENOME Lab Report Page 2 of 4 XXXXX, XXXXX Order ID: 12345-01234.