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

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

2 Russell-Silver syndrome: prenatal diagnosis for UPD7 1-3 weeks $730* 81402, 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, weeks $700* 81401x2, 81402, weeks $ x2, Cancel Gene Panel 4 weeks $2, Familial Adenomatous Polyposis (FAP):APC gene Full 6 weeks $1, Sequencing FAP: MYH Full Sequencing 6 weeks $ FAP: APC or MYH 2-3 weeks $ for APC known mutation for MYH known mutation FAP: APC or MYH Prenatal Diagnosis of Known 7-10 days $460* 81202, for APC prenatal 81403, for MYH prenatal Fibrodysplasia Ossificans Progressiva (FOP) 3 weeks $ FOP: Prenatal 1-3 weeks $ , Hemophilia A (Factor VIII): Inversion Analysis 3-4 weeks $ Hemophilia A (Factor VIII): Full Sequencing 4-6 weeks $1, Hemophilia A (Factor VIII): Deletion/Duplication 2-3 weeks $ Hemophilia A (Factor VIII): 2-3 weeks $ Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 2

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

4 HNPCC: MLH1, MSH2 Known 2-3 weeks $ for MLH1; for MSH2 HNPCC: Prenatal Diagnosis of MLH1 or MSH2 Known 1-3 weeks $460* 81293, for MLH , for MSH2 Li-Fraumeni Syndrome (TP53): Sequencing of exons weeks $ Li-Fraumeni Syndrome: Screening for 4-6 weeks $ deletion/duplication Li-Fraumeni Syndrome: Known 2-3 weeks $ 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, , weeks $1, , 81405, weeks $ Retinoblastoma: Known sequencing mutation or deletion/duplication 2-3 weeks $ 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 $ Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 4

5 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 $ x weeks $1, weeks $1, , 81404, X-Inactivation Studies: Individual 3-4 weeks $ X-Inactivation Studies: Individual and Parent(s) 3-4 weeks $ x3 Updated 01/01/2014 HCPCS Physician interpretation of report = G0452 for all tests Page 5

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