UNIVERSITY OF PENNSYLVANIA GENETIC DIAGNOSTIC LABORATORY. Name of Test Turnaround Time Cost CPT codes

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Beckwith-Wiedemann: methylation and copy number 3-4 weeks $800 81401x2, 81402, 81403 Beckwith-Wiedemann: CDKN1C sequencing 3 weeks $600 81404 Beckwith-Wiedemann: prenatal diagnosis for methylation and copy number Beckwith-Wiedemann: prenatal diagnosis for CDKN1C Beckwith-Wiedemann: prenatal diagnosis for methylation and copy number with CDKN1C 1-3 weeks $900* 81401x2, 81402, 81403, 81265 1-3 weeks $700* 81404, 81265 1-3 weeks $1500* 81401x2, 81402, 81403, 81404, 81265 Beckwith-Wiedemann: prenatal diagnosis for known familial mutation 1-3 weeks $700* (methylation) $460* (CDKN1C) Beckwith-Wiedemann: familial mutation 2-3 weeks $600 (methylation) $360 (CDKN1C) 81401x2, 81402, 81265 for methylation 81403, 81265 for CDKN1C 81401x2, 81402 for methylation 81403 for CDKN1C familial mutation IMAGe syndrome: CDKN1C sequencing 4-6 weeks $600 81404 IMAGe syndrome: known familial mutation 2-3 weeks $360 81403 IMAGe syndrome: prenatal diagnosis 1-3 weeks $700* $460* 81404, 81265 (suspected mutation) 81403, 81265 (known mutation) Russell-Silver syndrome: methylation and copy number 3-4 weeks $800 81401x2, 81402, 81403 Russell-Silver syndrome: UPD7 3 weeks $630 81402 Russell-Silver syndrome: prenatal diagnosis for methylation/copy number only 1-3 weeks $900* 81401x2, 81265 Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 1

Russell-Silver syndrome: prenatal diagnosis for UPD7 1-3 weeks $730* 81402, 81265 Russell-Silver syndrome: prenatal diagnosis for methylation/copy number with UPD7 Russell-Silver syndrome: prenatal diagnosis for known familial methylation defect Russell-Silver syndrome: known familial methylation defect 1-3 weeks $1530* 81401x2, 81402x2, 81403, 81265 1-3 weeks $700* 81401x2, 81402, 81265 2-3 weeks $600 81401x2, 81402 Cancel Gene Panel 4 weeks $2,000 81479 Familial Adenomatous Polyposis (FAP):APC gene Full 6 weeks $1,410 81201 Sequencing FAP: MYH Full Sequencing 6 weeks $660 81406 FAP: APC or MYH 2-3 weeks $360 81202 for APC known mutation 81403 for MYH known mutation FAP: APC or MYH Prenatal Diagnosis of Known 7-10 days $460* 81202, 81265 for APC prenatal 81403, 81265 for MYH prenatal Fibrodysplasia Ossificans Progressiva (FOP) 3 weeks $420 81403 FOP: Prenatal 1-3 weeks $520 81403, 81265 Hemophilia A (Factor VIII): Inversion Analysis 3-4 weeks $360 81403 Hemophilia A (Factor VIII): Full Sequencing 4-6 weeks $1,350 81407 Hemophilia A (Factor VIII): Deletion/Duplication 2-3 weeks $560 81406 Hemophilia A (Factor VIII): 2-3 weeks $360 81403 Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 2

Hemophilia A (Factor VIII): Prenatal Diagnosis of Known for prenatal inversion Mutation: Inversion, Seq. or del/dup 81403, 81265 for prenatal sequencing Hemophilia A (Factor VIII): Linkage Analysis 3-4 weeks $740 81479 Hemophilia B (Factor IX): Full Sequencing 4-6 weeks $840 81405 Hemophilia B: Promoter Analysis only for Factor IX 3-4 weeks $360 81404 Leyden Hemophilia B (Factor IX): 2-3 weeks $360 81403 Hemophilia B (Factor IX): Prenatal Diagnosis of Known Mutation Hereditary Hemorrhagic Telangiectasia (HHT): Full 6-8 weeks $1,800 81404, 81405x2, 81406 Sequencing with automatic reflex to Deletion/Duplication Analysis HHT: Deletion/Duplication Analysis only 3-4 weeks $560 81404, 81405 HHT: Known 2-3 weeks $360 81403 HHT: Prenatal Diagnosis of Known SMAD4: Full Sequencing 8-10 weeks $600 81406 SMAD4: Known 2-3 weeks $360 81403 SMAD4: Prenatal Diagnosis for Known Familial Mutation Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 3

HNPCC: MLH1, MSH2 Known 2-3 weeks $360 81293 for MLH1; 81296 for MSH2 HNPCC: Prenatal Diagnosis of MLH1 or MSH2 Known 1-3 weeks $460* 81293, 81265 for MLH1 81296, 81265 for MSH2 Li-Fraumeni Syndrome (TP53): Sequencing of exons 2-11 5-6 weeks $840 81405 Li-Fraumeni Syndrome: Screening for 4-6 weeks $560 81404 deletion/duplication Li-Fraumeni Syndrome: Known 2-3 weeks $360 81403 Li-Fraumeni Syndrome: Prenatal Diagnosis of Known Retinoblastoma: Full Sequencing of DNA from Frozen Tumor and/or Blood with automatic reflex to deletion/duplication Retinoblastoma: Full Sequencing of DNA from Paraffinembedded Tumor and Blood with automatic reflex to deletion/duplication Retinoblastoma: Deletion/Duplication Analysis of DNA from blood 8-10 weeks $1,880 81405, 81407 8-12 weeks $1,990 88381, 81405, 81407 4-6 weeks $560 81405 Retinoblastoma: Known sequencing mutation or deletion/duplication 2-3 weeks $360 81403 for known sequencing mutation or deletion/duplication of select exons <5; call for code for >5 exons of RB1 Retinoblastoma: Prenatal Diagnosis of Known Familial Mutation sequencing mutation or deletion/duplication for known sequencing mutation and for deletion/duplication <5 exons; call for code for >5 exons Retinoblastoma: MYCN 2-3 weeks $360 81402 Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 4

Sturge-Weber Syndrome and Non-syndromic Port-Wine Stains: GNAQ Uveal Melanoma: SNP-array of Chromosomes 3, 6, and 8 Uveal Melanoma-Related Gene Panel: GNAQ, GNA11, BAP1 4-5 weeks $800 81401x2 8-10 weeks $1,000 81229 4 weeks $1,200 81403, 81404, 81406 X-Inactivation Studies: Individual 3-4 weeks $360 81401 X-Inactivation Studies: Individual and Parent(s) 3-4 weeks $580 81401x3 Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 5