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Molecular Pathology (MoPath): Reimbursement for Dates of Service 01/01/13 -09/30/13 (revised 09/17/2013)

As instructed by CMS, CGS Administrators has determined a gap fill allowance for the 2013 MoPath CPT codes. The fees were based on the gap-filled process instructions found in CFR §414.508.

Claims Submission

All services to produce the assay result were evaluated and included in the listed fee. CGS has also included the coverage determination established during the review of available literature. We will continue to update this fee schedule as the remaining MoPath services are evaluated. The reimbursement amounts listed below are for dates of service January 1, 2013 thru September 30, 2013.

Important: Before you submit claims for molecular pathology tests, reference the "Required Text" (column 3, in the following table). Column 3 "Required Text" lists key components needed to adjudicate the claim. The first capitalized text in this column represents the acronym for the gene. The acronym is separated by a comma and the following text identifies the components evaluated on the gene including but not limited to the following items: a specific variant, known familial variant, duplication/deletions, exons, and full gene sequence. The table following the MoPath Fee Schedule provides a comprehensive abbreviation key for the test components.

  • Additional services should not be submitted in addition to the appropriate CPT code for your assay.
  • To submit claims for MoPath services, enter the appropriate acronym and the information following the comma in Loop 2400, NTE02, or SV101-7 field for electronic claims for each CPT code used to report the test. For paper claims, submit this information in Item 19.

Claims submitted without the required descriptor information will be rejected as invalid claims (remark code MA130).

Special Alert — For services that were submitted prior to April 14, 2013 for level 1 MoPath services (CPT codes 81200-81383), CGS will perform a mass adjustment on codes that were listed in the April 8, 2013 revision of this reimbursement schedule with a price increase. For any level 2 MoPath services (CPT codes 81400-81408) that are listed with a price increase, CGS is requesting lab providers to submit a reopening request to have claims adjusted with the corrected price.

Column 5 "Covered" key Indicator Description
Y Payable Medicare service
SE Not covered - statutorily excluded from Medicare benefit
N Not covered –failed reasonable/necessary Medicare criteria
L Limited coverage per published LCD
CPT Code Descriptor Required Text CGS Covered Comment
81161 DMD Dup/Delet AnalysisDMD (dystrophin) (eg, Duchene/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed DMD, dup_del No Data SE  
81200 Aspa gene ASPA, cv $93.90 SE  
81201 APC (adaenomatous polyposis coli full gene sequence) APC, fgs $749.92 SE
81202 known familial variants APC, kfv $93.94 SE
81203 duplication/deletion APC, dup_del $570.05 SE
81205 Bckdhb gene BCKDHB, cv $123.36 SE  
81206 Bcr/abl 1 gene major bp BCR_ABL1, majbp qual quant $108.37 Y  
81207 Bcr/abl 1 gene minor bp BCR_ABL1, minbp qual quant $90.31 Y  
81208 Bcr/abl 1 gene other bp BCR_ABL1, other bp qual quant $150.17 Y  
81209 Blm gene BLM, 2281 del6ins7 $93.90 SE  
81210 Braf gene BRAF, V600E $97.45 Y  
81211 BRCA 1 & 2 seq and com dup/del BRCA1, BRCA2, fgs cdup_del $2795.09 Y  
81212 BRCA 1 & 2 185, 58385, &617 var BRCA, BRCA2, 185delAG, 5385insC,6174delT $178.04 Y  
81213 BRCA 1 & 2 uncom dup/del BRCA1, BRCA2, uncom dup del $587.12 Y  
81214 BRCA 1 full seq & com dup/del BRCA1, fgscdup_del $1449.01 Y  
81215 Brca 1 full gene known fam variant BRCA1, fgs, kfv $93.94 Y  
81216 BRCA 2 gene full sequence BRCA2, fgs $1,747.04 SE  
81217 Brca 2 gene known fam variant BRCA2, kfv $93.94 Y  
81220 CFTR gene com variants CFTR, cv $800.46 SE  
81221 Cftr gene known fam variants CFTR, kfv $93.94 SE  
81222 CFTR gene dup/del variants CFTR, dup_del $129.55 SE  
81223 Cftr gene full sequence CFTR, fgs $1,554.46 SE  
81224 Cftr gene intron poly t CFTR, intron 8 poy-T $82.58 SE  
81225 Cyp2c19 gene com variants CYP2C19, cv $319.12 Y  
81226 Cyp2d6 gene com variants CYP2D6, cv $426.43 Y Coverage Change
81227 Cyp2c9 gene com variants CYP2C9, cv $169.50 N Coverage Change
81228 Cytogen micrarray copy nmbr Cytogen microarray copy nmbr $646.14 SE  
81229 Cytogen m array copy no&snp Cytogen microarray copy nmbr and SNP $675.56 SE  
81235 EGFR (epidermal growth receptor)(non-small cell lung) gene analysis, common variants (eg exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) EGFR, cv $225.00 Y  
81240 F2 gene F2, 20210G>A $41.41 Y  
81241 F5 gene F5, Leiden $78.39 Y  
81242 Fancc gene FANCC, cv $93.90 SE  
81243 Fmr1 gene detection FMR1 $60.51 SE  
81244 Fmr1 gene characterization FMR1, ma $100.09 SE  
81245 Flt3 gene FLT3, dup $112.00 Y  
81250 G6pc gene G6PC, cv $93.90 SE  
81251 Gba gene GBA, cv $93.90 SE  
81252 GJB2(gap junction protein, common variants GJB2, fgs $156.64 SE  
81253 known familial variants GJB2, kfv $81.56 SE  
81254 GJB6 gap junction protein gene analysis, common variants GJB6, cv $74.97 SE  
81255 Hexa gene (Tay Sachs) HEXA, cv $93.90 SE  
81256 Hfe gene HFE, cv $70.20 Y  
81257 Hba1/hba2 gene HBA1_HBA2, cdel or v $183.22 SE
81260 Ikbkap gene IKBKAP, cv $93.90 SE  
81261 lgh gene rearrange amp meth IGH, amp $148.12 Y  
81262 lgh gene rearrange dir probe IGH, dp $51.12 Y  
81263 lgh vari regional mutation IGH, variable region $259.93 Y  
81264 lgk rearrange bn clonal pop IGK. Gr $111.98 Y  
81265 Str markers specimen anal STR $414.94 Y Coverage Change 
81266 STR markers and addl STR add  No Data SE Coverage Change 
81267 Chimerism anal no cell selec Chimerism $149.72 Y  
81268 Chimerism anal w/cell selec Chimerism, add cell $149.72 Y  
81270 Jak2 gene JAK2, V617F $82.88 Y  
81275 Kras gene KRAS, codons 12 and 13 $246.40 Y  
81280 Long qt synd gene full sequence (12 genes) LQT, fgs 12 genes No Data SE  
81281 Long qt synd known fam var LQT, kfv No Data SE  
81282 Long qt syn gene dup/dlt var (12 genes) LQT, dup_del 12 genes No Data SE  
81290 Mcoln1 gene MCOLN1, cv $93.90 SE  
81291 Mthfr gene MTHFR, cv $92.92 Y  
81292 Mlh 1 gene full seq MLH1, fgs $803.28 Y  
81293 Mlh 1 gene known variants MLH1, kfv $93.94 Y  
81294 Mlh 1 gene dup/delete variant MLH1, dup_del $491.96 Y  
81295 Msh2 gene full seq MSH2, fgs $787.22 Y  
81296 Msh2 gene known variants MSH2, kfv $93.94 Y  
81297 Msh2 gene dup/delete variants MSH2, dup_del $542.77 Y  
81298 Msh6 gene full seq MSH6, fgs $617.61 Y  
81299 Msh6 gene known variants MSH6, kfv $93.94 Y  
81300 Msh6 gene dup/delete variants MSH6, dup_del $505.15 Y  
81301 Microsatellite instability MSI $320.84 Y  
81302 Mecp2 gene full seq(Rhetts) MECP2, fgs $312.94 SE  
81303 Mecp2 gene known variant(Rhetts) MECP2, kfv $117.68 SE  
81304 Mecp2 gene dup/delete variants (Rhetts) MECP2, dup_del $85.42 SE  
81310 Npm1 gene NPM1, exon 12 $58.84 Y  
81315 Pml/raralpha com breakpoints PML_RAR, sbp quant qual $117.54 Y  
81316 PML/RARalpha com 1 breakpoint PML_RAR, sbp quant qual No Data Y Coverage Change 
81317 Prms2 gene full seq analysis PMS2, fgs $642.58 Y  
81318 Prms2 known familial variants PMS2, dup_del $93.94 Y  
81319 Prms2 gene dup/delete variants PMS2, dup_del $462.42 Y  
81321 PTEN gene analysis, full sequence PTEN, fgs $605.24 Y  
81322 known familial variants PTEN, kfv $58.84 Y  
81323 duplication/deletion PTEN, dup_del $88.26 Y  
81324 PMP22 gene analysis, duplication/deletion PMP22, dup_del $486.16 SE  
81325 full sequence analysis PMP22, fgs $297.24 SE  
81326 known familial variants PMP22, kfv $93.94 SE
81330 Smpd1 gene common variants SMPD1, cv $93.90 SE  
81331 snrpn/ube3a gene SNRPN_UBE3A, ma $73.22 SE  
81332 Serpina1 gene SERPINA, cv $70.20 Y  
81340 Trb@gene rearrange amplify TRB, beta amp $148.12 Y  
81341 Trb@gene rearrange dirporbe TRB, dp $45.44 Y  
81342 Trg gene rearrangement anal TRG, gamma $148.12 Y  
81350 Ugl1 a1 gene UGT1A1, cv $67.25 SE  
81355 Vkorc1 gene VKORC1, cv $83.19 N Coverage Change per NCD 
81370 HLA I & II typng lr HLA I-II, lr $552.75 Y  
81371 HLA I & II type verify lr HLA I-II, lr A, B, DRB $330.84 Y  
81372 HLA I typing complete lr HLA I, lr complete $303.64 Y  
81373 HLA I typing 1 locus lr HLA I lr locus ea $153.08 Y  
81374 HLA I typing 1 antigen lr HLA I, lr antigen ea $100.00 Y  
81375 HLA II typing ag equiv lr HLA II, lr DRB1, DQB1 $303.43 Y  
81376 HLA II typing 1 locus lr HLA II, lr locus ea $168.00 Y  
81377 HLA II type 1 ag equiv lr HLA II, lr antigen ea $126.20 Y  
81378 HLA I & II typing hr HLA I-II, hr $475.00 Y  
81379 HLA I typing complete hr HLA I, hr complete $461.00 Y  
.81380 HLA I typing 1 locus hr HLA I, hr locus ea $243.64 Y  
81381 HLA I typing 1 allele hr HLA I, hr allele ea $130.00 Y  
81382 HLA II typing 1 loc hr HLA II, hr locus ea $170.00 Y  
81383 HLA II typing 1 allele hr HLA II, hr allele ea $150.00 Y  
81400 Tier 2 MoPath Procedure Level 1    
81400 ABCC8 ABCC8, F1388del No Data SE  
81400 ACADM ACADM, K304E $99.62 SE  
81400 ACE ACE, idv $82.58 Y  
81400 AGTR1 AGTR1, 1166A>C $75.88 SE  
81400 CCR5 CCR5, del $75.88 SE  
81400 CLRN1 CLRN1, N48K $93.94 SE  
81400 DPYD DPYD, IVS14+1G>A $81.70 SE  
81400 DYT1 (TOR1A) DYT1(TOR1A), IVS14+1G>A $106.32 SE  
81400 F13B F13B, V34L $70.20 Y  
81400 F2 (for 20210G>A) F2, 20210G>A $41.41 Y  
81400 F2( for 1199G>A) F2, 1199G>A $70.20 Y
81400 F5 F5, HR2 $64.52 Y  
81400 F7 F7R353Q $64.52 Y  
81400 FGB FGB, -455G>A $70.20 Y  
81400 FGFR3 FGFR3, P250R $52.14 SE  
81400 Human Platelet Antigen ANTIGEN 1(HPA-1) HPA, antigen ea $46.46 Y  
81400 Human Platelet Antigen ANTIGEN 15 (HPA-15) HPA, antigen ea $46.46 Y  
81400 Human Platelet Antigen ANTIGEN 2(HPA-2) HPA, antigen, ea $46.46 Y  
81400 Human Platelet Antigen ANTIGEN 3(HPA-3) HPA, antigen ea $46.46 Y  
81400 Human Platelet Antigen ANTIGEN 4(HPA-4) HPA, antigen ea $46.46 Y  
81400 Human Platelet Antigen ANTIGEN 5(HPA-5) HPA, antigen ea $46.46 Y  
81400 Human Platelet Antigen ANTIGEN 6(HPA-6w) HPA, antigen ea $46.46 Y  
81400 Human platelet antigen  Antigen 9 (HPA-9), HPA, antigen ea $46.46 Y  
81400 IVD IVD, A282V $46.46 SE  
81400 SERPINE1 SERPINE1, 4G $58.84 Y  
81400 SHOC2-Noonan-Like Syndrome SHOC2, S2G No Data SE  
81400 SMN1 SMN1, exon 7 del $70.20 SE  
81400 SRY SRY No Data SE  
           
 
81401 Tier 2 Mopath procedure level 2    
81401 ABL1 (c-abl oncogene 1) ABL1, T315I $153.01 Y  
81401 ACADM (acy-CoA dehydrogenase) ACADM, cv No Data SE
81401 ADRB2 ADRB2, cv $55.49 SE
81401 APOB APOB, cv No Data SE  
81401 APOE APOE, cv $46.46 SE  
81401 AR (androgen receptor) AR, alleles No Data SE  
81401 ATN1 ATN1 $58.84 SE  
81401 CBFB/MYH11 CBFB_MYH11, quan qual No Data SE  
81401 CBS CBS, cv No Data SE  
81401 CCND1/IGH CCND1_IGH, ta majbp qual qual $93.94 Y  
81401 CFH/ARMS2 CFH_ARMS2, cv $90.59 SE  
81401 CYP3A4 CYP3A4, cv $46.46 SE  
81401 CYP3A5 CYP3A5, cv $46.46 SE  
81401 CYFB-MYH11 CYFB_MYH11, cv $138.82 Y  
81401 DMPK (dystrophia myotonica-protein kinase) DMPK $66.41 SE  
81401 E2A/PBX1 E2A_PBX1, ta qual quan $105.30 Y  
81401 EML4-ALK EML4_ALK, ta or ia $128.48 Y  
81401 ETV6-RUNX1 ETV6_RUNX1, ta qual quan $90.31 Y  
81401 EWSR1/ERG EWSR1_ERG, ta qual quan $151.42 Y  
81401 EWSR1/FLI1 EWSR1_FLI1, ta qual quan $162.85 Y  
81401 EWSR1/WT1 EWSR1_WT1, ta qual quan $203.84 Y  
81401 F11 coagulation factor XI F11, cv $75.88 Y  
81401 FGFR3 FGFR3, cv $84.91 SE  
81401 FIP1L1-PDGFR FIP1L1_PDGFR, qual quan $90.82 Y  
81401 FOXO1/PAX3 FOXO1_PAX3, ta, qual quan $120.75 Y  
81401 FOXO1/PAX7 FOXO1_PAX7, ta, qual quan $120.75 Y  
81401 FXN (frataxin) FXN, alleles No Data SE  
81401 GALT (galactose-1-phosphate uridylyltransferase) GALT, cv $299.08 SE  
81401 H19 H19, ma $112.00 SE  
81401 HBB (hemoglobin, beta) HBB, cv $147.81 SE  
81401 HTT (huntingtin) HTT, alleles $82.58 SE  
81401 KCNQ10T1 (KCNQ1 overlapping transcript 1) KCNQ10T1, ma No Data SE  
81401 MEG3/DLK1 MEG3_DLK1, ma No Data SE  
81401 MLL/AFF MLL_AFF1, ta qual quan $101.67 SE  
81401 MLL/MLLT3 MLL_MLLT3, ta, qual quan No Data SE  
81401 MT-ATP6 MT-ATP6, cv No Data SE  
81401 MT-ND4, MT-ND6 MT-ND4, MT-ND6, cv $131.08 SE  
81401 MT-ND5 mitochondrially encoded tRNA leucine 1 (UUA/G) mitochondrially encoded NADH dehydrogenase 5) MT-ND5, cv $183.22 SE  
81401 MT-RNR1 (mitochondrially encoded 12S RNA) MT-RNR1, cv $85.93 SE  
81401 MT-TK (mitochondrially encoded tRNA lysine) MT-TK, cv No Data SE  
81401 MT-TL1 MT-TL1, cv No Data SE  
81401 MT-TS1 MT-TS1, cv $130.38 SE  
81401 MUTYH (mutY homolog (E.coli)) MUTYH, cv $82.07 Y  
81401 NPM/ALK NPM_ALK, ta No Data Y  
81401 PAX8/PPARG PAX8_PPARG, ta $54.19 Y  
81401 PRSS1 (protease, serine, 1 (trypsin 1)) PRSS1, cv $105.30 SE  
81401 PYGM PYGM, cv No Data SE  
81401 RUNX1/RUNX1T1 RUNX1_RUNX1T1, ta qual quan $106.05 Y  
81401 SEPT9 (Septin 9) SEPT9, ma $90.59 SE  
81401 SMN1/SMN2 (survival of motor neuron 1, telomeric/survival of motor neuron 2, centromeric) SMN1_SMN2, dosage $74.75 SE  
81401 TPMT (thiopurine S-methyltransferase) TPMT, cv $111.61 Y  
81401 TYMS (thymidylate synthetase) TYMS, trv $169.10 Y  
81401 VWF (von Willebrand factor) VWF, cv $278.18 Y  
81402 Mopath procedure level 3    
81402 CYP21A2 CYP21A2, cv $390.18 SE  
81402 Chromosome 18q C18q No Data SE  
81402 ESR1/PGR ESR1_PGR, ratio No Data SE  
81402 IGH/BCL2 IGH_BCL2, majbpr and mcr bp qual quan No Data Y  
81402 KIT KIT, cv $98.13 Y  
81402 MEFV (Mediterranean fever) (e.g., familial Mediterranean fever) MEFV, cv $138.58 SE  
81402 MPL MPL, cv $101.45 SE  
81402 TRD TRD, gr No Data N  
81402 Uniparental disomy (UPD) UPD, str $130.05 N  
81403 Mopath procedure level 4    
81403 ABL1 (c-abl oncogene 1) ABL1 $156.89 Y  
81403 ANG (angiogenin, ribonuclease, RNase A family, 5) ANG, fgs No Data SE  
81403 CEBPA CEBPA, fgs $235.54 Y  
81403 CEL (carboxyl ester lipase[bile salt-stimulated lipase]) CEL, exon 11 No Data SE  
81403 DAZ/SRY DAZ_SRY, cdel No Data SE
81403 F8 (coagulation factor VIII) F8, intron 1 and 22a $81.05 Y
81403 FGFR3 (fibroblast growth factor receptor 3) one exon FGFR, exon 7 $88.26 SE  
81403 GJB1 (gap junction protein, beta 1) (e.g., Charcot-Marie-Tooth X linked), full gene sequence GJB1, fgs No Data SE  
81403 HBB (hemoglobin, beta, beta-globin, beta thalassemia) HBB, dup_del No Data SE  
81403 HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog Costello syndrome) HRAS, exon 2 $88.33 SE  
81403 IDH1 IDH1, exon 4 $67.70 Y  
81403 IDH2 (isocitrate dehydrogenase 2) IDH2, exon 4 $67.70 Y  
81403 JAK2 (Janus kinase 2) JAK2, exon 12 and 13 $109.14 Y  
81403 KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene) KRAS, exon 3 No Data SE  
81403 MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) MPL, exon 10 $106.32 SE  
81403 MT-RNR1 (mitochondrially encoded 12S RNA) MT-RNR1, fgs $114.72 SE  
81403 MT-TS1 (mitochondrially encoded tRNA serine 1) MT-TS1, fgs $114.72 SE  
81403 SMN1 (survival of motor neuron 1, telomeric) SMN1, kfv No Data SE  
81403 VHL (von Hippel-Lindau tumor suppressor) VHL, dup_del $83.60 Y  
81403 VWF (von Willebrand factor) VWF, tsa $284.20 Y  
81404 Mopath procedure level 5    
81404 ACADS (acyl-CoA dehydrogenase) ACADS, tsa $247.74 SE  
81404 AQP2 (aquaporin 2 [collecting duct]) AQp2, fgs No Data SE  
81404 ARX ( aristaless related homebox) ARX, fgd No Data SE  
81404 BTD (biotinidase) BTD, fgs $328.05 SE  
81404 CAV3 (caveolin 3) (e.g., CAV3- related distal myopathy, limb-girdle muscular dystrophy type 1C), full gene sequence CAV3, fgs No Data SE  
81404 CDKN2A (cyclin-dependent kinase inhibitor 2A) CDKN2A, fgs $373.14 Y  
81404 CLRN1 (clarin 1) CLRN1, fgs No Data SE  
81404 CPT2 (caritine palmitoyltransferase) CPT2, fgs No Data SE  
81404 CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) CYP1B1, fgs $278.18 SE  
81404 DMPK (dystrophia myotonica-protein kinase) DMPK $66.41 SE  
81404 EGR2 (early growth response 2) (e.g., Charcot-Marie-Tooth) EGR2, fgs $296.24 SE  
81404 FGFR2 (fibroblast growth factor receptor 2) (2 EXONS) FGFR2, exons 8, 10 $368.90 SE  
81404 FGFR3 (fibroblast growth factor receptor 3) (4 EXONS) FGFR3, exons 8, 11, 12, 13 $280.51 SE  
81404 FKRP (Fukutin related protein) FKRP, fgs No Data SE  
81404 FOXG1 (forkhead box G1) FOXG1, fgs $325.66 SE  
81404 FSHD1A (facioscapulohumeral muscular dystrophy 1A) FSHMD1A No Data SE  
81404 FXN (frataxin) FXN, fgs No Data SE  
81404 HBA1/HBA2 (alpha globin 1 and alpha globin 2) HBA1_HBA2, dup_del No Data SE  
81404 HBB (hemoglobin, beta, beta-globin) HBB, fgs $206.96 SE  
81404 HNF1B (HNF1 homeobox B) (eg maturity-onset diabetes of the young type 5) HNF1B, dup_del No Data SE  
81404 HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog) HRAS, fgs No Data SE  
81404 KCNJ10 (potassium inwardly-rectifying channel, subfamily J, member 10) KCNJ10, fgs No Data SE  
81404 KIT (C-kit) (v-kit Hardy-Zuckerman 4 feline sarcoma) KIT, tga $213.47 Y  
81404 LITAF (lipopolysaccharide-induced TNF factor) LITAF, fgs No Data SE  
81404 MEFV (Mediterranean fever) MEFV, fgs $329.41 SE  
81404 MEN1 (multiple endocrine neoplasia type 1) MEN1, dup_del No Data SE  
81404 NRAS (neuroblastoma RAS viral oncogene homolog) NRAS, exon 1, 2 $148.04 Y  
81404 PDGFRA (platelet-derived growth factor receptor alpha polypeptide) PDGFRA,tsa $111.44 Y Text change
81404 PDX1 (pancreatic and duodenal homeobox) PDX1, fgs No Data SE  
81404 PRNP (prion protein) PRNP, fgs No Data SE  
81404 PRSS1 (protease, serine, 1 [trypsin 1]) PRSS1, fgs $248.76 Y  
81404 RAF1 (v-raf-murine leukemia viral oncogene homolog 1) RAF1, exons7, 12, 14, 17 No Data SE  
81404 RET (RET proto-oncogene) RET, cv No Data SE  
81404 SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) SDHD, fgs No Data SE  
81404 SLC25A4 (solute carrier family 25 [mitochondrial carrier; adenine nucleotide translocation] SLC25A4, fgs No Data SE  
81404 TP53 (tumor protein 53) TP53, 2-5 exons No Data SE  
81404 TRR (Transthyretin) TTR, fgs No Data SE  
81404 TYR (tyrosinase [oculocutaneous albinism IA]) TYR, fgs No Data SE  
81404 USH1G (Usher syndrome 1G[autosomal recessive]) USH1G, fgs No Data SE  
81404 VHL (von Hippel-Lindau tumor suppressor) VHL, fgs $639.96 Y  
81404 VWF (Von Willebrand factor) VWF, tsa No Data SE
81405 Mopath procedure level 6    
81405 ABCD1 (ATP-binding cassette, sub-family D [ALD] ABCD1, fgs No Data SE  
81405 ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain) (e.g., short chain acyl-CoA) ACADS, fgs No Data SE  
81405 ACTC1 (actin, alpha, cardiac muscle 1) ACTC1, fgs No Data SE  
81405 APTX (aprataxin) APTX, fgs No Data SE  
81405 AR (androgen receptor) AR, fgs No Data SE  
81405 CHRNA4 (cholinergic receptor, nicotine, alpha 4) CHRNA4, fgs No Data SE
81405 CHRNB2 (cholinergic receptor, nicotinic, beta 2 neuronal) CHRNB2, fgs No Data SE  
81405 CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide2) CYP21A2, fgs $147.10 SE  
81405 DFNB59 (deafness, autosomal recessive 59) DFNB59, fgs No Data SE  
81405 DHCR7 (7-dehydrocholesterol reductase) DHCR7, fgs No Data SE  
81405 EYA1 (eyes absent homolog 1 [Drosophila]) EYA1, dup_del No Data SE  
81405 F9 (coagulation factor IX) F9, fgs No Data SE  
81405 FH (fumarate hydratase) FH, fgs No Data SE  
81405 FKTN (fukutin) (e.g., limb-girdle muscular dystrophy) FKTN, fgs No Data SE  
81405 GFAP (glial fibrillary acidic protein) GFAP, fgs No Data SE  
81405 GLA (galactosidase, alph) GLA, fgs No Data SE  
81405 HBA1/HBA2 (alpha globin 1 and alpha globin 2) HBA1_HBA2, fgs No Data SE  
81405 HNF1A (HNF1 homeobox A) HNF1A, fgs No Data SE  
81405 HNF1B (HNF1 homeobox B) HNF1B, fgs No Data SE
81405 KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog) KRAS, fgs No Data SE  
81405 LAMP2 (lysosomal-associated membrane protein 2) LAMP2, fgs No Data SE  
81405 MEN1 (multiple endocrine neoplasia) MEN1, fgs $426.32 Y  
81405 MPZ (myelin protein zero) MPZ, fgs $296.24 SE  
81405 MYL2 (myosin, light chain 2, regulatory, cardiac, slow) MYL2, fgs No Data SE  
81405 MYL3 (myosin, light chain 3, alkali, ventricular, skeletal, slow) MYL3, fgs No Data SE  
81405 MYOT (myotilin) MYOT, fgs No Data SE  
81405 NEFL (neurofilament, light polypeptide) NEFL, fgs No Data SE  
81405 NF2 (neirofibromin 2 [Merlin]) NF2, dup_del No Data SE  
81405 NSD1 (nuclear receptor binding SET domain protein 1) NSD1, dup_del No Data SE  
81405 OTC (ornithine carbamoyltransferase) OTC, fgs No Data SE  
81405 PDHB (pyruvate dehydrogenase [lipoamide] beta) PDHB, fgs no Data SE  
81405 PSEN1 (presenilin 1) PSEN1, fgs No Data SE  
81405 RET (RET proto-oncogene) (e.g., multiple endocrine neoplasia, type 2A and familial medullary thyroid carcinoma) RET, tsa No Data SE  
81405 SDHB (succinate dehydrogenase complex, subunit B, iron sulfur) (e.g.hereditary paraganglioma-pheochromocytoma type 4) SDHB, fgs No Data SE  
81405 SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa) SDHC, fgs No Data SE  
81405 SGCA (sarcoglycan, alpha [50kDa dystrophin-associated glycoprotein]) SGCA, fgs No Data SE  
81405 SGCB (sarcoglycan, beta [43kDa dystrophin-associated glycoprotein]) SGCB, fgs No Data SE  
81405 SGCD (sarcoglycan, delta [35kDa dystrophin-associated glycoprotein]) SGCD, fgs No Data SE  
81405 SGCG (sarcoglycan, gamma [35kDa dystrophin-associated glycoprotein]) SGCG, fgs No Data SE  
81405 SHOC2 (soc-2 suppressor of clear homolog) SHOC2, fgs No Data SE  
81405 SMN1 (survival of motor neuron 1, telomeric) SMN1, fgs No Data SE  
81405 SPRED1 (sprouty-related, EVH1 domain containing 1) SPRED1, fgs No Data SE  
81405 TGFBR1 (transforming growth factor, beta receptor 1) TGFBR1, fgs No Data SE  
81405 TGFBR2 (transforming growth factor, beta receptor 2) TGFBR2, fgs No Data SE  
81405 THRB (thyroid hormone receptor, beta) THRB, fgs>5 exons No Data SE  
81405 TNNI3 (troponin 1, type 3 [cardiac]) TNNI3, fgs No Data SE  
81405 TP53 (tumor protein 53) (e.g., Li-Fraumeni syndrome, tumor) TP53, fgs or tsa>5 No Data SE  
81405 TPM1 (tropomyosin 1 [alpha]) TPM1, fgs No Data SE  
81405 TSC1 (tuberous sclerosis 1) TSC1, dup_del No Data SE  
81405 VWF (von Willebrand factor) VWF, tsa $292.63 Y  
81406 Mopath procedure level 7    
81406 ACADVL (acyl-CoA dehydrogenase, very long chain) ACADVL, fgs No Data SE  
81406 ACTN4 (actinin, alpha 4) ACTN4, fgs No Data SE  
81406 ANO5 (anoctamin 5) ANO5 $331.85 SE  
81406 APP (amyloid beta [A4] precursor protein) APP, fgs No Data SE  
81406 ATP7B (ATPase, Cu++ transporting, beta polypeptide) ATP7B, fgs No Data SE
81406 BRAF (v-raf murine sarcoma viral oncogene homolog B1) BRAF, fgs No Data  SE
81406 CAPN3 (Calpain 3) CAPN3, fgs $538.98 Y
81406 CBS (cystathionine-beta-synthase) CBS, fgs No Data SE  
81406 CDH1 (cystathionine-beta-synthase) CDH1, fgs No Data SE  
81406 CDKL5 (cyclin-dependent kinase-like 5) CDKL5, fgs $120.88 SE
81406 DLAT (dihydrolipoamide S-acetyltransferase) DLAT, fgs No Data SE  
81406 DLD (dihydrolipoamide dehydrogenase) DLD, fgs $561.68 SE  
81406 EYA1 (eyes absent homolog 1 [Drosophila]) EYA1, fgs $402.56 SE  
81406 F8 (coagulation factor VIII) F8, dup_del $1227.78 SE  
81406 GAA (glucosidase, alpha; acid) GAA, fgs No Data SE  
81406 GALT (galactose-1-phosphate uridylyltransferase) GALT, fgs $88.26 SE
81406 GCDH (glutaryl-CoA dehydrogenase) GCDH, fgs No Data SE
81406 GCK (glucokinase [hexokinase 4]) GCK, fgs $356.96 SE  
81406 HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein) alpha subunit) HADHA,fgs No Data SE  
81406 HEXA (hexosaminidase A, alpha polypeptide) HEXA, fgs No Data SE  
81406 HNF4A (hepatocyte nuclear factor 4, alpha) HNF4A, fgs $75.88 SE  
81406 IVD (isovaleryl-CoA dehydrogenase) IVD, fgs $533.13 SE  
81406 JAG1 (jagged 1) Jag1, dup_del No Data SE  
81406 LDB3 (LIM domain binding 3) LDB3, fgs No Data SE  
81406 LMNA (lamin A/C) LMNA, fgs No Data SE  
81406 MAP2K1 (mitogen-activated protein kinase 1) MAP2K1, fgs No Data SE
81406 MAP2K2 (mitogen-activated protein kinase 2) MAP2K2, fgs No Data SE  
81406 MCCC2 (methylcrotonoyl-CoA carboxylase 2 [beta]) MCCC2, fgs No Data SE  
81406 MUTYH (mutY homolog (E. coli)) MUTYH, fgs $548.35 SE  
81406 NF2 (neurofibromin 2 (merlin)) NF2, fgs No Data SE  
81406 NOTCH3 (notch 3) NOTCH3, tsa $367.46 SE  
81406 NSD1 (nuclear receptor binding SET domain protein 1) NSD1, fgs $945.81 SE  
81406 OPA1 (optic atrophy 1) (e.g., optic atrophy), OPA1, dup_del No Data SE  
81406 PAH (phenylalanine hydroxylase) PAH, fgs No Data SE  
81406 PALB2 (partner and localizer of BRCA2) PALB2, fgs $645.64 SE  
81406 PAX2 (paired box 2) PAX2, fgs No Data SE  
81406 PC (pyruvate carboxylase PC, fgs $252.68 SE  
81406 PCCB (propionyl CoA carboxylase, beta polypeptide PCCB, fgs No Data SE  
81406 PDHA1 (pyruvate dehydrogenase (lipoamide) alpha1) PDHA1, fgs No Data SE  
81406 PDHX (pyruvate dehydrogenase complex, component) PDHX, fgs $402.56 SE  
81406 POLG (polymerase (DNA directed), gamma) POLG, fgs No Data SE
81406 POMGNT1 (protein O-linked mannose beta1, 2-N acetylglucosaminyltransferase) POMGNT1, fgs No Data SE
81406 POMT1 (protein-O-mannosyltransferase 1) POMT1, fgs No Data SE  
81406 POMT2 (protein-O-mannosyltransferase 2) POMT2, fgs No Data SE  
81406 PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit) PRKAG2, fgs No Data SE  
81406 PSEN2 (presenilin 2[Alzheimer's disease 4]) PSEN2, fgs No Data SE  
81406 PTPN11 (protein tyrosine phosphatase, non-receptor type 11) PTPN11, fgs No Data SE  
81406 PYGM (phosphorylase, glycogen, muscle) PYGM, fgs $664.21 SE  
81406 RYR1 (ryanodine receptor 1, skeletal) RYR1, tsa No Data SE  
81406 RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1) RAF1, fgs No Data SE  
81406 RET (ret-proto-oncogene) RET, fgs $168.83 Y  
81406 SLC26A4 (solute carrier family 26, member 4) SLC26A4, fgs No Data SE  
81406 SLC9A6 (solute carrier family 9 (sodium/hydrogen exchanger) member 6) SLC9A6, fgs $687.44 SE  
81406 SOS1 (son of sevenless homolog 1) SOS1, fgs $990.66 SE  
81406 TAZ (tafazzin) TAZ, fgs No Data SE  
81406 TNNT2 (troponin T, type 2[cardiac]) TNNT2, fgs No Data SE  
81406 TSC1 (tuberous sclerosis 1) TSC1, fgs No Data SE  
81406 TSC2 (tuberous sclerosis 2) TSC2, dup_del No Data SE  
81406 UBE3A (ubiquitin protein ligase) UBE3A, fgs $794.78 SE  
81406 VWF (von Willebrand factor) VWF, etsa No Data SE  
81407 Mopath procedure level 8    
81407 ABCC8 (ATP-binding cassette, sub-family C [CFTR/MRP], member 8) ABCC8, fgs No Data SE  
81407 CHD7 (chromodomain helicase DNA binding protein 7) CHD7, fgs No Data SE  
81407 F8 (coagulation factor VIII) F8, fgs $1649.42 SE  
81407 JAG1 (jagged 1) JAG1, fgs No Data SE  
81407 MYBPC3 (myosin binding protein C, cardiac) MYBPC3, fgs No Data SE
81407 MYH6 (myosin, heavy chain 6, cardiac muscle, alpha) MYH6, fgs No Data SE  
81407 MYH7 (myosin, heavy chain 7, cardiac muscle, beta) MYH7, fgs No Data SE  
81407 MYO7A (myosin VIIA) MYO7A, fgs No Data SE  
81407 NOTCH1 (notch 1) NOTCH1, fgs No Data SE  
81407 OPA1 (optic atrophy) OPA1, fgs No Data SE  
81407 PCDH15 (protocadherin-related 15) PCDH15, fgs No Data SE  
81407 SCN1A (sodium channel, voltage-gated, type 1, alpha subunit) SCN1A, fgs No Data SE  
81407 SCN5A (sodium channel, voltage-gated, type V, alpha subunit) SCN5A, fgs No Data SE  
81407 TSC2 (tuberous sclerosis 2) TSC2, fgs No Data SE  
81407 USH1C (Usher syndrome 1C [autosomal recessive, severe]) USH1C, fgs No Data SE  
           
81408 Mopath procedure level 9    
81408 ATM (ataxia telangiectasia mutated) ATM, fgs No Data SE
81408 CDH23 (cadherin-related 23) CDH23, fgs No Data SE  
81408 COL1A1 (collagen, type I, alpha 1) COL1A1, fgs No Data SE  
81408 COL1A2 (collagen, type I, alpha 2) COL1A2, fgs No Data SE  
81408 DYSF (dysferlin, limb girdle muscular dystrophy 2B [autosomal recessive]) DYSF, fgs No Data SE  
81408 FBN1 (fibrillin 1 FBN1, fgs No Data SE  
81408 NF1 (neurofibromin 1) NF1, fgs No Data SE  
81408 RYR1 (ryanodine receptor 1, skeletal) RYR1, fgs No Data SE  
81408 USH2A (Usher syndrome 2A [autosomal recessive, mild]) USH2A, fgs No Data SE  
81408 VWF (von Willebrand factor) (e.g., von Willebrand disease types 1 and 3), VWF, fgs No Data SE  

Descriptor column abbreviation key

Abbreviation Key lower case claim text
Amplified amp
Additional add
Breakpoints bp
Common c
common duplications_deletions cdup_del
common variants cv
common breakpoints cbp
Deletion del
direct probe dp
Duplication dup
duplication_deletion dup_del
Each ea
extended targeted sequence analysis etsa
full gene sequence fgs
gene rearrangement gr
high resolution hr
insertion/deletion variant idv
inversion analysis ia
known familial variants kfv
low resolution lr
major breakpoint majbp
major breakpoint region mbpr
methylation analysis ma
Microsatellite instability MSI
minor breakpoint minbp
minor cluster region mcr
Number nmbr
Qualitative qual
Quantitative quan
short tandem repeat str
single breakpoint sbp
somatic mutation sm
tandem repeat variant trv
targeted gene analysis tga
targeted sequence analysis tsa
translocation analysis ta
Variant var

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