2012 CPT Code Updates

Transcription

1 This publication is a summary of The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory effective January 1, Tests not listed in this summary do not have CPT code changes at this time. To receive a complete ARUP test list in electronic format, please contact Erica Cuttitta at (800) ext CPT codes provided are for informational purposes only. The codes reflect our interpretation of CPT coding requirements, based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare Administrative Contractor, or other payor as requirements may differ from one to another. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published. The 2012 CPT code manual contains new codes for molecular pathology. At this publication, it is unclear how these codes will be handled in all cases. ARUP strongly recommends that clients confirm CPT codes with their Medicare Administrative Contractor, or other payors as requirements may differ from one to another. ARUP continues to evaluate this process with government and industry officials and will update you as information is made available. Please direct any questions regarding CPT coding to the payor being billed. Test Number Test Name 2012 CPT Codes 2011 CPT Codes Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden PTT F Homocysteine F2 gene analysis APC resistance If reflexed add F5 gene analysis Leiden variant PTT; F8; thcy; Isolation; Amplification; Nucleic acid probes; Int/report; APC; if reflexed, add Isolation; Amplification; Nucleic acid probes; Int/report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited APC Resistance Profile with Reflex to Factor V Leiden APC resistance If reflexed add F5 gene analysis Leiden variant APC; if reflexed, add Isolation; Nucleic acid probes; Amplification; Interpretation and report; - Additional CPT code test for oncologic or inherited Fragile X (FMR1) Diagnostic FMR1 characterization of alleles PCR: Isolation; x2 Amplification; Capillary electrophoresis Southern Blot: Isolation; x2 Digestion; Gel Separation; Southern transfer; Nucleic acid probe; Interpretation & report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Huntington Disease (HD) Mutation with Reflex to Southern Blot Molecular Pathology Procedure Level 2 If reflexed add Molecular Pathology Procedure Level Isolation; Amplification; Separation and identification; Interpretation and report; If reflexed to Southern blot, add Isolation; Digestion; Separation by gel electrophoresis; Southern transfer; Nucleic acid probe - Page 1 of 30

2 PAX-FKHR Translocation by RT-PCR Molecular Pathology Procedure Level Isolation; Lysis; Reverse transcription; x3 Amplification; x3 Nucleic SYT-SSX, t(x;18) Transloc by RT-PCR Molecular Pathology Procedure Level Isolation; Reverse transcription; x2 Amplification; Interpretation and report Haptoglobin (HP) Genotyping Molecular Pathology Procedure Level Isolation; x2 Amplification; x4 Nucleic KIT (D816V) Mutation by PCR, Tissue Molecular Pathology Procedure Level Isolation; x2 Amplification; Mutation identification; Gel separation; Interpretation and report. Additional CPT code test for oncologic or inherited KIT (D816V) Mutation by PCR, Paraffin Molecular Pathology Procedure Level Lysis; Isolation; x2 Amplification; Mutation identification; Gel separation; Interpretation and report. Additional CPT code test for oncologic or inherited diso KIT (D816V) Mutation by PCR, Fluid Molecular Pathology Procedure Level Isolation; x2 Amplification; Mutation identification; Gel separation; Interpretation and report. Additional CPT code test for oncologic or inherited JAK2 Gene, V617F Mutation, Quantitation JAK2 gene analysis Isolation; x2 Amplification; Nucleic Acid Probe; Interpretation and report NPM1 Mutation, Fluid NPM1 gene analysis Isolation; Amplification; Nucleic acid probe; Capillary electrophoresis; Interpretation and report. Additional CPT code test for oncologic NPM1 Mutation, Paraffin NPM1 gene analysis Lysis; Isolation; Amplification; Nucleic acid probe; Capillary electrophoresis; Interpretation and report. procedures performed to test for oncologic KRAS Mutation Detection KRAS gene analysis Microdissection; Lysis; x2 Amplification; x2 Sequencing; test oncologic or inherited HER2 Gene Amplification by PCR, Paraffin Molecular Pathology Procedure Level Microdissection; Lysis; x2 Amplification; Interpretation and report Cystic Fibrosis (CFTR) 3199del6 Mutation Molecular Pathology Procedure Level Isolation; x2 Amplification; x4 Nucleic Page 2 of 30

3 Beta Globin (HBB) Sequencing, Fetal Molecular Pathology Procedure Level Isolation; x4 Amplification; Gel separation; x3 Sequencing; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification; x14 Additional Amplification; Capillary electrophoresis. For MCC Maternal cell ( ) add: Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis; Interpretation and report Ankylosing Spondylitis (HLA-B27) Genotyping Molecular Pathology Procedure Level Isolation; Amplification; Interpretation and report. Additional CPT code test for oncologic or inherited RhCc Antigen (RHCE) Genotyping Molecular Pathology Procedure Level Isolation; x4 Nucleic acid probes; x2 Amplification; Interpretation and report RhEe Antigen (RHCE) Genotyping Molecular Pathology Procedure Level Isolation; x2 Nucleic acid probes; Amplification; Interpretation and report RUNX1-RUNX1T1 (AML1-ETO) Translocation, t(8;21) by RT-PCR MLL-AFF1 (MLL-AF4) Translocation, t(4;11) by RT- PCR Fragile X (FMR1) Diagnostic, Fetal FMR1 characterization of alleles Molecular Pathology Procedure Level Isolation; Reverse transcription; x2 Amplification; x4 Nucleic acid probes; test for oncologic or inherited Molecular Pathology Procedure Level Isolation; Reverse transcription; x2 Amplification; x4 Nucleic acid probes; test for oncologic or inherited PCR: Isolation; x2 Amplification; Capillary electrophoresis Southern Blot: Isolation; x2 Digestion; Gel separation; S. trans; Nucleic acid probe; Interpretation and report Fetal Cell Contamination (FCC): Amplification multiplex; x14 Amplification; Capillary electrophoresis Maternal Cell Contamination (MCC) ( ): Isolation; Amplification; x 14 Amplification; Capillary Twin Zygosity Testing Isolation; Separation and identification; Amplification; x14 Multiplex amplification; Interpretation and report Beta Globin (HBB) Gene Sequencing Molecular Pathology Procedure Level Isolation; x4 Amplification; Gel electrophoresis; x3 Sequencing; Capillary Page 3 of 30

4 Cytochrome P450 2C9 (CYP2C9) 2 Mutations CYP2C9 gene common variant Isolation; x2 Amplification; x2 Nucleic Cytochrome P450 2C19 (CYP2C19) 9 Mutations CYP2C19 gene common variant Isolation; Multiplex Amplification; x4 Additional Amplification; x18 Extension; test for oncologic or inherited Cystic Fibrosis (CFTR) Sequencing CFTR full gene sequence Isolation; x32 Amplification; x32 Interpretation and report. Additional CPT code test for oncologic or inherited Galactosemia, (GALT) Enzyme Activity & 9 Mutations GALT quantitative Molecular Pathology Procedure Level Enzymatic; Isolation; Amplification; x9 Mutation identification; Capillary Electrophoresis; Interpretation and report Galactosemia, (GALT) 9 Mutations Molecular Pathology Procedure Level Isolation; Amplification; x9 Mutation identification; Capillary Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations Molecular Pathology Procedure Level Isolation; x2 Amplification; x4 Nucleic Ewing's Sarcoma by RT-PCR Molecular Pathology Procedure Level Isolation; Reverse transcription; x3 Amplification; x3 Nucleic acid probes; Interpretation and report. Additional CPT code test for oncologic and inherited Cytochrome P450 2D6 (CYP2D6) 14 Mutations & Gene Duplication CYP2D6 gene common variant Isolation; Amplification multiplex; x6 Amplification; x12 Mutation identification; test for oncologic or inherited JAK2 Gene, V617F Mutation, Qualitative JAK2 gene variant Isolation; Multiplex; Mutation identification; Gel separation; Interpretation and report Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha- 1-Antitrypsin Phenotype SERPINA1 gene variant If reflexed, add Phenotype A1A; Isolation; x2 Amplification; x4 Nucleic acid probes; Interpretation and report. If reflexed, add Phenotype. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Ewing's Sarcoma ERG Translocation by RT-PCR Molecular Pathology Procedure Level Amplification; Nucleic acid probes; modifiers may be required for procedure performed to test for oncologic or inherited Page 4 of 30

5 Achondroplasia (FGFR3) 2 Mutations, Fetal Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic acid probes; Interpretation and report. FCC: Multiplex amplification; x14 Additional amplification; Capillary electrophoresis. MCC MAT ( ): Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis, Interpretation and report Achondroplasia (FGFR3) 2 Mutations Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic acid probes; Interpretation and report Galactosemia, (GALT ) 9 Mutations, Fetal Molecular Pathology Procedure Level Isolation; Amplification; x9 Mutation identification; Capillary electrophoresis; Interpretation and report. FCC: Amplification multiplex (first two sequences); x14 Amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Amplification multiplex (first two sequences); x14 Amplification; Capillary procedures performed to test for oncological or inherited Beta-2-Adrenergic Receptor (ADBR2) Haplotyping Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic acid probe; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Platelet Antigen Genotyping Panel Molecular Pathology Procedure Level Isolation; x7 Amplification; x14 Nucleic Platelet Antigen 1 Genotyping (HPA-1) Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic Platelet Antigen 2 Genotyping (HPA-2) Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic Platelet Antigen 3 Genotyping (HPA-3) Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic Platelet Antigen 5 Genotyping (HPA-5) Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic Platelet Antigen 6 Genotyping (HPA-6) Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic Page 5 of 30

6 Platelet Antigen 15 Genotyping (HPA-15) Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 gene common variant Isolation; Amplification; Capillary electrophoresis; Interpretation and report Galactosemia (GALT) Sequencing Molecular Pathology Procedure Level Isolation; x7 Amplification; x7 Interpretation and report Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Molecular Pathology Procedure Level Isolation; x2 Nucleic Acid Probes; x2 Extension; x2 Amplification; Capillary Hypochondroplasia (FGFR3) 1 Mutation Molecular Pathology Procedure Level Isolation; x2 Amplification; x4 Nucleic acid probes; Interpretation and report. procedures to test for oncologic or inherited RhD Antigen (RhD) Genotyping Molecular Pathology Procedure Level Isolation; x3 Amplification; x6 Nucleic acid probes; Interpretation and report Warfarin Sensitivity (CYP2C9 & VKORC1 ) 3 Mutations CYP2C9 gene common variant VKORC1 gene common variant Isolation; x3 Amplification; x3 Nucleic acid probes; Interpretation and report. disorders Connexin 26 (GJB2), Sequencing Molecular Pathology Procedure Lavel Isolation: x2 Amplification; x3 Interpretation and report Rett Syndrome (MECP2), Full Gene Sequencing MECP2 full sequence analysis Isolation; x7 Amplification; x6 Interpretation and report Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing & Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) 35delG Mutation Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Molecular Pathology Procedure Level Isolation; x23 Amplification; x23 Sequencing; x2 Capillary electrophoresis; test for oncologic or inherited Molecular Pathology Procedure Level Molecular Pathology Procedure Level 6 Sequencing: Isolation; x23 Amplification; x23 Sequencing; x2 Capillary electrophoresis; Del/Dup: x2 Nucleic Acid Probes; x2 Amplification; x2 Extension; Capillary electrophoresis; Interpretation and report. Additional CPT code modifiers may be required inherited Molecular Pathology Procedure Level Isolation; x2 Nucleic acid probes; Interpretation and report Molecular Pathology Procedure Level Isolation; x6 Amplification; x6 Interpretation and report Page 6 of 30

7 Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA) BLM gene variant variant ASPA gene common variant IKBKAP gene common variant FANCC gene common variant GBA gene common variant common variant MCOLN1 gene common variant SMPD1 gene common variant HEXA gene common variant common variant Isolation; x2 Enzymatic digestion; Amplification multiplex (first two amplifications); x16 Amplification multiplex (each additional amplification); x31 Mutation identification; Separation and identification; test for oncologic or inherited Beta Globin (HBB) HbS, HbC, & HbE Mutations Molecular Pathology Procedure Level Isolation; x2 Amplification; x3 Nucleic acid probe; Interpretation and report Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Molecular Pathology Procedure Level Isolation; x2 Amplification; x3 Nucleic acid probes; Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillary electrophoresis. If MCC Maternal Cell ( ) is performed, add: Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis; test for oncologic or inherited Tay-Sachs (HEXA) 7 Mutations HEXA gene common variant Isolation; x2 Enzymatic digestion; Amplification multiplex (first two amplifications); x3 Amplification multiplex (each additional amplification); x7 Mutation identification; Separation and identification; Interpretation and inherited Tay-Sachs (HEXA) 7 Mutations, Fetal HEXA gene common variant Isolation; x2 Digestion; Multiplex amplification (first two amplifications); x3 Additional amplification; x7 Extension; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Bloom (BLM) 2281del6/ins7 Mutation BLM gene variant Isolation; x2 Enzymatic digestion; Amplification; Mutation identification; Separation and identification; Interpretation and inherited Page 7 of 30

8 Bloom (BLM) 2281del6/ins7 Mutation, Fetal BLM gene variant Isolation; x2 Digestion; electrophoresis Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillaryelectrophoresis. If MCC MAT ( ) is performed: Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Gaucher (GBA) 8 Mutations GBA gene common variant Isolation; x2 Enzymatic digestion; Amplification multiplex; x8 Mutation identification; Separation and identification; test for oncologic or inherited Gaucher (GBA) 8 Mutations, Fetal GBA gene common variant Isolation; x2 Digestion; Multiplex amplification; x8 Extension; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Multiplex amplification; x14 Additional amplification; Capillary Mucolipidosis, Type IV (MCOLN1) 2 Mutations MCOLN1 gene common variant Isolation; x2 Digestion; Amplification multiplex; x2 Mutation identification; Separation and identification; test for oncologic or inherited Mucolipidosis, Type IV (MCOLN1) 2 Mutations, Fetal MCOLN1 gene common variant Isolation; x2 Digestion; Multiplex amplification; x2 Extension; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Multiplex amplification; x14 Additional amplification; Capillary disorder Canavan Disease (ASPA) 4 Mutations ASPA gene common variant Isolation; x2 Enzymatic digestion; Amplification multiplex (first two amplifications); Amplification multiplex (each additional amplification) x5 Mutation identification; Separation and identification; Interpretation and report - Page 8 of 30

9 Canavan (ASPA) 4 Mutations, Fetal ASPA gene common variant Isolation; x2 Digestion; Multiplex amplification (first two amplifications); Additional amplification; x5 Extension; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Niemann-Pick, Type A (SMPD1) 4 Mutations SMPD1 gene common variant Isolation; x2 Enzymatic digestion; Amplification multiplex; x4 Mutation identification; Separation and identification; test for oncologic or inherited Niemann-Pick, Type A (SMPD1) 4 Mutations, Fetal SMPD1 gene common variant Isolation; x2 Digestion; Multiplex amplification; x4 Extension; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Multiplex amplification; x14 Additional amplification; Capillary Dysautonomia, Familial (IKBKAP) 2 Mutations IKBKAP gene common variant Isolation; x2 Enzymatic digestion; Amplification; x2 Mutation identification; Separation and identification; Interpretation and inherited Dysautonomia, Familial (IKBKAP) 2 Mutations, Fetal IKBKAP gene common variant Isolation; x2 Digestion; Amplification; x2 Extension; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification (first two sequences); x14 Additional amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Multiplex amplification; x14 Additional amplification; Capillary Fanconi Anemia, Group C (FANCC) 2 Mutations FANCC gene common variant Isolation; x2 Enzymatic digestion; Amplification multiplex; x2 Mutation identification; Separation and identification; test for oncologic or inherited Page 9 of 30

10 Fanconi Anemia, Group C (FANCC) 2 Mutations, Fetal FANCC gene common variant Isolation; x2 Digestion; Amplification multiplex; x2 Mutation identification; Separation and identification; Interpretation and report. FCC: Amplification multiplex (first two sequences); x14 Amplification; Capillary electrophoresis. If MCC MAT ( ) is performed: Isolation; Amplification multiplex; x14 Amplification; Capillary electrophoresis; Interpretation and inherited Glaucoma (Primary Congenital), CYP1B1 Sequencing Molecular Pathology Procedure Level Isolation; x4 Amplification; x8 test for oncologic or inherited Platelet Antigen 4 Genotyping (HPA-4) Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic Multiple Endocrine Neoplasia, Type 2B (RET) 2 Mutations Alpha Thalassemia (HBA1 & HBA2) 7 Deletions HBA1/HBA2 gene common deletion or variant Thanatophoric Dysplasia, Types 1 & 2 (FGFR3) 13 Mutations Thanatophoric Dysplasia, Types 1 & 2 (FGFR3) 13 Mutations, Fetal Molecular Pathology Procedure Level Isolation; x2 Amplification; x2 Nucleic acid probes; Interpretation and report Isolation; Amplification multiplex; x8 Additional amplification; Gel separation; test for oncologic or inherited Molecular Pathology Procedure Level Isolation; Multiplex amplification; x2 Additional amplification; x9 Extension; Capillary electrophoresis; Interpretation and inherited Molecular Pathology Procedure Level Isolation; Multiplex amplification; x2 Additional amplification; x9 Extension; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification; x14 Additional amplification; Capillary electrophoresis. For MCC Maternal cell ( ) add: Isolation; Multiplex amplification; x14 Additional amplification; Capillary Additional CPT Codes may be required for procedures performed to test for oncologic or inherited Juvenile Polyposis (SMAD4) Sequencing Molecular Pathology Procedure Level Isolation; x12 Amplification; x10 Interpretation and report- Additional CPT code test for oncologic or inherited Rett Syndrome (MECP2), Full Gene Analysis MECP2 full sequence analysis MECP2 gene duplication/deletion variant Rett sequencing: Isolation; x7 Amplification; x6 Sequencing; Capillary electrophoresis; Interpretation and report. RETT MLPA: Nucleic acid probe; Extension; Amplification; Capillary electrophoresis. Page 10 of 30

11 Rett Syndrome (MECP2), Deletion and Duplication MECP2 gene duplication/deletion variant Cystic Fibrosis (CFTR) Sequencing with Reflex to CFTR full gene sequence If reflexed to, add CFTR gene duplication/deletion variant Isolation; Nucleic acid probes; Extension; Amplification; Capillary electrophoresis; Interpretation and report. Sequencing: Isolation; x32 Amplification; x32 Sequencing; Capillary electrophoresis; Interpretation and report. If reflexed to, add Nucleic Acid Probes; electrophoresis. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Cystic Fibrosis (CFTR) CFTR gene duplication/deletion variant Isolation; Nucleic Acid Probes; Electrophoresis; Interpretation and report Kell K/k Antigen (KEL) Genotyping Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic acid probes; Interpretation and report. procedures preformed to test for oncologic or inherited HNPCC/Lynch Syndrome (MLH1) Sequencing and HNPCC/Lynch Syndrome (MSH2) Sequencing and HNPCC/Lynch Syndrome (MSH6) Sequencing and MLH1 full sequence analysis MLH1 gene duplication/deletion variant MSH2 full sequence analysis MSH2 gene duplication/deletion variant Molecular Pathology Procedure Level MSH6 full sequence analysis MSH6 gene duplication/deletion variant Sequencing portion: Isolation; x20 Amplification; x20 Sequencing; x2 Capillary electrophoresis; Del: Nucleic Acid Probes; Amplification; Extension; Capillary Electrophoresis; Interpretation and inherited Sequencing portions: Isolation; x20 Amplification; x20 Sequencing; x2 Capillary electrophoresis; Del: Nucleic Acid Probes; Amplification; Extension; Capillary Electrophoresis; Interpretation and inherited Sequencing: Isolation; x19 Amplification; x19 Sequencing; x2 Capillary electrophoresis.del: x10 Nucleic Acid Probes; x10 Amplification; x10 Extension; Capillary Electrophoresis; Interpretation and inherited Macular DeGeneration, Age-Related, 2 DNA Markers Molecular Pathology Procedure Level Isolation; Amplification; x4 Nucleic acid probe; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Primary Carnitine Deficiency (SLC22A5) Sequencing Molecular Pathology Procedure Level Isolation; x10 Amplification; x10 Interpretation and report. - Additional CPT code test for oncologic or inherited Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic acid probe; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Page 11 of 30

12 Biotinidase Deficiency (BTD) 5 Mutations Molecular Pathology Procedure Level Isolation; Multiplex amplification; x2 Additional amplification; x5 Extension; Capillary electrophoresis; Interpretation and inherited Alport Syndrome, X-linked (COL4A5) 3 Mutations Molecular Pathology Procedure Level Isolation; Amplification; Multiplex amplification; x 6 Nucleic acid probe; test for oncologic or inherited Biotinidase Deficiency (BTD) Sequencing Molecular Pathology Procedure Level Isolation; x6 Amplification; x6 Interpretation and report HNPCC/Lynch Syndrome (PMS2) Sequencing and HNPCC/Lynch Syndrome, Microsatellite Instability by PCR BRAF codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation PMS2 full gene sequence PMS2 gene duplication/deletion variant If pseudogene analysis is performed, add Molecular Pathology Procedure Level 5 Sequencing: Isolation; x18 Amplification; x15 Sequencing; Capillary electrophoresis.del/dup: x15 Nucleic Acid Probes; x15 Amplification; x15 Extension; Capillary electrophoresis; Interpretation and report. If pseudogene analysis is performed, add: x6 Amplification; x5 Sequencing; Capillary electrophoresis. - Additional CPT code test for oncologic or inherited Microsatellite instability x2 Lysis; x2 Isolation; x7 Amplification; Capillary electrophoresis; test for oncologic or inherited BRAF gene variant. If refelxed add Molecular Pathology Procedure Level Lysis; Microdissection; Sequencing; Amplification; Interpretation and report; if reflexed, add x2 Nucleic Acid Probes; x2 Amplification; Interpretation and report. Additional CPT code modifiers may be requir FG Syndrome, FGS1 (MED12) R961W Mutation Molecular Pathology Procedure Level Isolation; Amplification; x 2 Nucleic procedure performed to test oncologic or inherited Molar Pregnancy, 16 DNA Markers x2 Lysis; x2 Isolation; x32 Amplification; Capillary electrophoresis; Interpretation and report. - Additional CPT code test for oncologic or inherited Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing Molecular Pathology Procedure Level Isolation; x 12 Amplification; x 12 Sequencing; capillary electrophoresis; Interpretation and report. - Additional CPT code test for oncologic or inherited Alport Syndrome, X-linked (COL4A5) Sequencing Molecular Pathology Procedure Level Isolation; x46 Amplification; x46 Sequencing; x2 capillary electrophoresis; Interpretation and report. - Additional CPT code test for oncologic or inherited Noonan Syndrome (PTPN11) Sequencing Molecular Pathology Procedure Level Isolation; x15 Amplification; x15 test for oncologic or inherited Page 12 of 30

13 TCF3-PBX1 (E2A-PBX1) Translocation, t(1;19) by RT- PCR Molecular Pathology Procedure Level Isolation; Reverse transcription; ; x2 Amplification; x4 Nucleic acid probes; test for oncologic or inherited B-Cell Clonality by PCR, Fluid IGH gene rearrangement analysis Isolation; x6 Amplification; x3 Gel separation; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited BCR-ABL, t(9;22) Translocation Qualitative by RT-PCR BCR/ABL1 translocation analysis; BCR/ABL1 gene minor breakpoint Isolation; Reverse transcription; x6 Amplification; x3 Gel separation; test for oncologic or inherited B-Cell Clonality Screening Assay by PCR, Tissue IGH gene rearrangement analysis Lysis; Isolation; x6 Amplification; x3 Gel Electrophoresis; Interpretation and inherited IGH-CCND1 (BCL-1/JH) Translocation, t(11;14) by PCR, Fluid IGH-CCND1 (BCL-1/JH) Translocation, t(11;14) by PCR, Tissue Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk Molecular Pathology Procedure Level Isolation; x3 Amplification; x2 Gel separation; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Molecular Pathology Procedure Level Lysis; Isolation; x3 Amplification; x2 Gel separation; Interpretation and inherited Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic T-Cell Clonality by PCR, Fluid TRG gene rearrangement analysis Isolation; x4 Amplification; x3 Nucleic acid probes; x4 Capillary electrophoresis; test for oncologic or inherited T-Cell Clonality Screening Assay by PCR, Tissue TRG gene rearrangement analysis Lysis; Isolation; x4 Amplification; x3 Nucleic Acid Probes; x4 Capillary B-Cell Clonality Assessment by Restriction Fragment- Southern Blot Hybridization, Tissue B-Cell Clonality Assessment by Restriction Fragment Southern Blot Hybridization, Fluid IGH direct probe methodology Lysis; Isolation; x4 Digestion; Gel Electrophoresis; Southern Transfer; Nucleic Acid Probe; Interpretation and report IGH direct probe methodology Isolation; x4 Enzymatic digestion; Gel separation; Southern transfer; Nucleic acid probe; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Page 13 of 30

14 T-Cell Clonality Assessment by Restriction Fragment- Southern Blot Hybridization, Tissue T-Cell Clonality Assessment by Restriction Fragment- Southern Blot Hybridization, Fluid B-Cell and T-Cell Clonality Assessment by PCR, Fluid IGH gene rearrangement analysis TRG gene rearrangement analysis B-Cell and T-Cell Clonality Assessment by PCR, Tissue IGH gene rearrangement analysis TRG gene rearrangement analysis B-Cell and T-Cell Comprehensive Clonality Assessment, Fluid B-Cell and T-Cell Comprehensive Clonality Assessment, Tissue IGH-BCL2 (BCL-2/JH) Translocation, t(14;18) by PCR, Fluid IGH-BCL2 (BCL-2/JH) Translocation, t(14;18) by PCR, Tissue IGH-CCND1 (BCL-1/JH) Translocation, t(11;14) by PCR, Paraffin IGH-BCL2 (BCL-2/JH) Translocation, t(14;18) by PCR, Paraffin direct probe methodology Lysis; Isolation; x3 Digestion; Gel electrophoresis; Southern transfer; Nucleic acid probe; Interpretation and report TRB@ direct probe methodology Isolation; x3 Digestion; Gel Electrophoresis; Southern transfer; Nucleic acid probe; Interpretation and report - procedures performed to test for oncologic or inheri IGH gene rearrangement analysis TRG gene rearrangement analysis IGH direct probe methodology TRB@ direct probe methodology IGH gene rearrangement analysis TRG gene rearrangement analysis IGH direct probe methodology TRB@ direct probe methodology Isolation; x9 Amplification; x3 Gel electrophoresis; x3 Nucleic Acid Probes; x4 Capillary electrophoresis; Interpretation and for procedures performed to test for o Lysis; Isolation; x9 Amplification; x3 Gel electrophoresis; x3 Nucleic acid probes; x4 Capillary electrophoresis; modifiers may be required for procedures performed Isolation; x9 Amplification; x5 Gel electrophoresis; x5 Nucleic acid probes; x4 Capillary electrophoresis; x7 Digestion; x2 Southern transfer; Interpretation and report - Additional CPT code modifiers may b Lysis; Isolation; x9 Amplification; x5 Gel electrophoresis; x5 Nucleic acid probes; x4 Capillary electrophoresis; x7 Digestion; x2 Southern transfer; mo Molecular Pathology Procedure Level Isolation; x6 Amplification; x3 Gel separation; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Molecular Pathology Procedure Level Isolation; x6 Amplification; x3 Gel separation; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Molecular Pathology Procedure Level Lysis; Isolation; x3 Amplification; x2 Gel separation; Interpretation and inherited Molecular Pathology Procedure Level Lysis; Isolation; x6 Amplification; x3 Gel separation; Interpretation and inherited B-Cell Clonality Screening Assay by PCR, Paraffin IGH gene rearrangement analysis Lysis; Isolation; x6 Amplification; x3 Gel separation; Interpretation and inherited B-Cell and T-Cell Clonality Assessment by PCR, Paraffin IGH gene rearrangement analysis TRG gene rearrangement analysis Lysis; Isolation; x9 Amplification; x3 Gel electrophoresis; x3 Nucleic Acid Probes; x4 Capillary electrophoresis; modifiers may be required for procedures performed Page 14 of 30

15 T-Cell Clonality Screening Assay by PCR, Paraffin TRG gene rearrangement analysis Lysis; Isolation; x4 Amplification; x3 Nucleic acid probes; x4 Capillary procedures performed to test for oncologic or inhe Apolipoprotein B (APOB) Mutation Detection Molecular Pathology Procedure Level Isolation; Amplification; x2 Nucleic Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations MTHFR gene common variant Isolation; Molecular diagnostics; x4 Nucleic acid probe; Interpretation and report Hemochromatosis (HFE) 3 Mutations HFE gene common variant Isolation; Amplification; x2 Nucleic BIRC2-MALT1 (API2-MALT1) Translocation, t(11;18) by RT-PCR Molecular Pathology Procedure Level Isolation; Reverse transcription; x3 Amplification; Gel separation; test for oncologic or inherited Cystic Fibrosis (CFTR) 5T Mutation CFTR gene intron 8 poly-t analysis Isolation; Multiplex amplification; x31 Additional amplification; x2 OLA; Capillary electrophoresis; Interpretation and report Cystic Fibrosis Cis-Trans (CFTR) R117H & 5T Mutations ETV6-RUNX1 (TEL-AML1) Translocation, t(12;21) by RT-PCR Molecular Pathology Procedure Level Isolation; Amplification; Multiplex amplification; x4 Mutation identification; Separation and identification; Interpretation and inherited Molecular Pathology Procedure Level Isolation; Reverse transcription; x2 Amplification; x2 Nucleic acid probes; test for oncologic or inherited Prothrombin (F2) G20210A Mutation F2 gene analysis A variant Isolation; Amplification; Nucleic acid probe; Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Page 15 of 30

16 Thrombotic Risk, DNA Panel F5 gene analysis Leiden variant F2 gene analysis A variant MTHFR gene common variant Factor V Leiden (F5) R506Q Mutation:83891 Isolation; Amplification; Nucleic acid probes; test for oncologic or inherited Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations: Isolation; Molecular diagnostics; x4 Nucleic acid probe; test for oncologic or inherited Prothrombin (F2) G20210A Mutation: Isolation; Amplification; Nucleic acid probe; test for oncologic or inherited CBFB-MYH1, inv(16) by RT-PCR Molecular Pathology Procedure Level Isolation; Reverse transcription; x5 Amplification; x3 Gel separation; test for oncologic or inherited Factor V Leiden (F5) R506Q Mutation F5 gene Leiden variant Isolation; Amplification; Nucleic Hemophilia B (F9) Sequencing Molecular Pathology Procedure Level Isolation; x8 Amplification; x8 test for oncologic or inherited Alpha Thalassemia (HBA1 & HBA2) Sequencing Molecular Pathology Procedure Level Isolation; x2 Amplification; x6 Sequencing; capillary electrophoresis; test for oncologic or inherited Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Molecular Pathology Procedure Level 4. If reflexed to F8 sequencing, add Molecular Pathology Procedure Level 8. If reflexed to F8 Del/Dup, add Molecular Pathology Procedure Level HNPCC/Lynch Syndrome If ordered for MLH1, MLH1 gene duplication/deletion variant If ordered for MSH2, MSH2 gene duplication/deletion variant and Molecular Pathology Procedure Level 3 If ordered for MSH6, MSH6 gene duplication/deletion variant If ordered for PMS2, PMS2 gene duplication/deletion variant If sequencing is performed add Molecular Pathology Procedure Level 6 Inversion: Isolation; x2 Digestion; x2 Ligation; Amplification; Gel separation; Interpretation and report. If reflexed to sequencing, add Isolation; x34 Amplification; x34 Sequencing; Capillary electrophoresis. If reflexed to, add Nucleic acid probes; Amplification; Extension; Capillary electrophoresis - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Isolation; x10 Nucleic Acid probes; x10 Amplification; x10 Extension; Capillary electrophoresis; Interpretation and report. If sequencing is performed for PMS2, add x10 Amplification; x8 Sequencing; Capillary electrophoresis. - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Page 16 of 30

17 Hemophilia A (F8) Sequencing Molecular Pathology Procedure Level Isolation; x34 Amplification; x34 test for oncologic or inherited Hemophilia A (F8) Molecular Pathology Procedure Level Isolation; Nucleic acid probes; Hemophilia A (F8) 2 Inversions, Fetal Molecular Pathology Procedure Level 4 Inversion: Isolation; x2 digestion; x2 Extension; Amplification; Gel separation; test for oncologic or inherited FCC: Multiplex amplification; x14 Additional Amplification; Capillary electrophoresis. If MCC Maternal cell ( ) is performed, add: Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis; Interpretation and report Hemophilia A (F8) 2 Inversions Molecular Pathology Procedure Level 4 Inversion: Isolation; x2 digestion; x2 Extension; Amplification; Gel separation; test for oncologic or inherited Y Chromosome Microdeletion Molecular Pathology Procedure Level Isolation; Amplification, x8 Multiplex amplification; Capillary KRAS Mutation Detection with Reflex to BRAF Codon 600 Mutation Detection KRAS gene variants; If reflexed add BRAF gene variant Microdissection; Lysis; x2 Amplification; x2 Sequencing; Interpretation and report, if reflexed, add Amplification; Sequencing; Interpretation and report - Additional CPT code modifiers may be required for p Cystic Fibrosis (CFTR) 32 Mutations CFTR gene common variant Isolation; Amplification; x30 Multiplex amplification; x32 OLA; Capillary Fragile X (FMR1) Screen with Reflex to Fragile X (FMR1) Diagnostic FMR1 gene analysis If reflexed, add FMR1 characterizataion of alleles Isolation; Amplification; Capillary electrophoresis; Interpretation & report; if reflexed, add PCR: Isolation; x2 Amplification; Capillary electrophoresis. Southern Blot: Isolation; x2 Digestion; Gel Separation; Southern transfer; Nucleic acid probe; Interpretation & report - Page 17 of 30

18 Neurofibromatosis Type 1 (NF1) Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Familial Mutation, Targeted Sequencing Molecular Pathology Procedure Level 4 Add the following for each additional mutation: Molecular Pathology Procedure Level 4; may change depending on gene of interest Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Reflex to Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing Molecular Pathology Procedure Level Isolation; x2 Nucleic acid probes; x2 Amplification; x2 Extension; x2 Capillary Molecular Pathology Procedure Level Isolation; Multiplex amplification; Additional amplification; Capillary electrophoresis; Interpretation and report. procedures preformed to test for oncologic or inherited CFTR gene common variant. If reflexed to CFTR Sequencing: CFTR full gene sequence If reflexed to CFTR Del/Dup: CFTR gene duplication/deletion variant CFTR gene common variant If reflexed to CFTR Sequencing: CFTR full gene sequence Cystic Fibrosis (CFTR) 32 Mutations, Atypical CFTR gene common variant CFTR gene intron 8 poly-t analysis Cystic Fibrosis (CFTR) 32 Mutations, Fetal CFTR gene common variant Isolation; Amplification; Interpretation and report. Add the following for each additional mutation: Amplification; Sequencing - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Isolation; Multiplex amplification; x30 Additional amplification; x32 OLA; Capillary electrophoresis; Interpretation and report. If reflexed to sequencing, add Isolation; x32 Amplification; x32 Sequencing; Capillary electrophoresis. If reflexed to, add Nucleic acid probes; electrophoresis - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited Isolation; Multiplex amplification; x30 Additional amplification; x32 OLA; Capillary electrophoresis; Interpretation and report. If reflexed to sequencing, add Isolation; x32 Amplification; x32 Sequencing; Capillary electrophoresis - Additional CPT code test for oncologic or inherited Isolation; Amplification; x30 Multiplex amplification; x33 OLA; Capillary Isolation; Multiplex amplification; x30 Additional amplification; x32 Mutation identification by OLA; Capillary electrophoresis; Interpretation and report. FCC: Multiplex amplification; x14 Additional amplification; Capillary electrophoresis. If MCC Maternal Cell ( ) is performed, add: Isolation; Multiplex amplification; x14 Additional amplification; Capillary electrophoresis; test for oncologic or inherited Page 18 of 30