PWS Attachment 1_Germline Genetics Price Schedule 03032022.xlsx
XLSX spreadsheet 29 KB Posted
- Attached to
- Q301--Germline Genetic Lab Testing Services_VHA_National Oncology Program Federal contract opportunity
- Solicitation number
- 36C10X22Q0164
About this file
This sources sought notice outlines requirements for germline genetic testing services for the Department of Veterans Affairs Veterans Health Administration National Oncology Program. Mandatory testing includes multi-gene panels, single gene assays, and next generation sequencing for cancer, cardiovascular, gastrointestinal, neurological, endocrine, ophthalmologic, renal, immunologic, autoimmune, skeletal, birth defects, and carrier screening. Preferred areas include chromosomal, prenatal, pharmacogenetics, mitochondrial, and polygenic testing. The contractor must offer online ordering and results portal, raw data transfer, weekly and monthly utilization reports, quality assurance, and education programs. Interested parties must have three years experience, GSA schedule, and be able to submit a response if an solicitation is issued. The response deadline is June 2, 2022.
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|---|---|---|
| 36C10X22Q0164.docx | DOCX document |
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Genomic Tests
| Services require the ordering provider is able to create custom gene panels at no additional cost. | |||||
| Completed by VA | Complete by VA | Mandatory or Preferred | Completed by VA | Completed by Vendor | Completed by Vendor |
| Generic Name | Genes Included (examples) | Estimated Quantity Per Year | Company Code | Cost Per Test | |
| Single Gene | varies depending on familial mutation | Mandatory | 280 | ||
| Custom Panel | varies depending on personal/family history | Preferred | 500 | ||
| Breast Cancer Panel | ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD50, STK11, TP53 | Mandatory | 90 | ||
| Breast/Gyn Cancer Panel | ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53 | Mandatory | 160 | ||
| Colorectal Cancer Panel | APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53, ATM, BLM, BUB1B, CEP57, ENG, FLCN, GALNT12, MLH3, RNF43, RPS20 | Mandatory | 150 | ||
| Common Hereditary Cancers | APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, GREM1, HOXB13, KIT, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL | Mandatory | 250 | ||
| Multicancer Panel | AIP ALK APC ATM AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN1C CDKN2A CEBPA CHEK2 CTNNA1 DICER1 DIS3L2 EGFR EPCAM FH FLCN GATA2 GPC3 GREM1 HOXB13 HRAS KIT MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NTHL1 PALB2 PDGFRA PHOX2B PMS2 POLD1 POLE POT1 PRKAR1A PTCH1 PTEN RAD50 RAD51C RAD51D RB1 RECQL4 RET RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TERC TERT TMEM127 TP53 TSC1 TSC2 VHL WRN WT1 | Mandatory | 615 | ||
| Prostate Cancer Panel | ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, FANCL, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53 | Mandatory | 2500 | ||
| Renal/Urinary Tract Cancer Panel | BAP1, CDC73, CDKN1C, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, MET, MLH1, MSH2, MSH6, PMS2, PTEN, REST, SDHB, SDHC, SMARCA4, SMARCB1, TP53, TSC1, TSC2, VHL, WT1 | Mandatory | 35 | ||
| Pancreatic Cancer Panel | APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, SMAD4, STK11, TP53, TSC1, TSC2, VHL | Mandatory | 300 | ||
| Pancreatitis Panel | CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1 | Mandatory | 10 | ||
| Paraganglioma/Pheochromocytoma Panel | MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL | Mandatory | 10 | ||
| Melanoma Panel | BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN, RB1, TP53 | Mandatory | 18 | ||
| Gastric Cancer Panel | APC, BMPR1A, CDH1, CTNNA1, EPCAM, KIT, MLH1, MSH2, MSH6, NF1, PDGFRA, PMS2, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53 | Mandatory | 27 | ||
| Hyperparathyroidism Panel | AP2S1, CASR, CDC73, CDKN1B, GNA11, MEN1, RET | Mandatory | 10 | ||
| Lynch Syndrome Panel | EPCAM, MLH1, MSH2, MSH6, PMS2 | Mandatory | 45 | ||
| Schwannomatosis Panel | LZTR1, NF2, SMARCB1 | Mandatory | 4 | ||
| Neurofibromatosis Type 1 | NF1 | Mandatory | 10 | ||
| Neurofibromatosis Type 2 | NF2 | Mandatory | 4 | ||
| Polyposis Panel | APC, MSH3, MUTYH, NTHL1, POLD1, POLE | Mandatory | 20 | ||
| Familial Hypercholesterolemia Panel | APOB, LDLR, LDLRAP1, PCSK9 | Mandatory | 45 | ||
| Cardiomyopathy Panel | ABCC9, ACTC1, ACTN2, AGL, BAG3, CACNA1C, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GLA, HCN4, JUP, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | Mandatory | 50 | ||
| Hypertrophic Cardiomyopathy Panel | ACTC1, ACTN2, AGL, BAG3, CACNA1C, CAV3, CSRP3, DES, FHL1, FLNC, GAA, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL | Mandatory | 27 | ||
| Dilated Cardiomyopathy Panel | ABCC9, ACTC1, ACTN2, BAG3, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKRP, FKTN, FLNC, JUP, LAMP2, LMNA, MYBPC3, MYH7, PKP2, PLN, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | Mandatory | 20 | ||
| Hereditary Hemorrhagic Telangiectasia | ACVRL1, ENG, GDF2, RASA1, SMAD4 | Mandatory | 6 | ||
| Familial Transthyretin Amyloidosis | TTR | Mandatory | 35 | ||
| Arrhythmia Panel | ABCC9, ACTN2, ANK2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DES, DSC2, DSG2, DSP, EMD, FLNC, GPD1L, HCN4 ,JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NKX2-5, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TMEM43, TNNI3, TNNT2, TRDN, TTN | Mandatory | 20 | ||
| Long QT Panel | ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TRDN | Mandatory | 20 | ||
| Polycystic Kidney Disease Panel | DNAJB11, GANAB, HNF1B, PKD1, PKD2 | Mandatory | 20 | ||
| Muscular Dystrophy Panel | ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GMPPB, ISPD, ITGA7, LAMA2, LARGE1, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN | Mandatory | 10 | ||
| Limb Girdle Muscular Dystrophy Panel | ANO5, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, ISPD, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN | Mandatory | 10 | ||
| Hereditary Neuropathy Panel | AARS, AIFM1, ATL1, ATL3, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF1A, LITAF, LMNA, LRSAM1, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF2, SCN11A, SCN9A, SH3TC2, SIGMAR1, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, UBA1, VAPB, VRK1, WNK1, YARS | Mandatory | 27 | ||
| Charcot-Marie Tooth Panel | AARS, AIFM1, BSCL2, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, LITAF, LMNA, LRSAM1, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SLC25A46, SPG11, TFG, TRIM2, TRPV4, YARS | Mandatory | 18 | ||
| Ataxia Repeat Expansion Panel | ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FMR1, FXN, NOP56, PPP2R2B, TBP | Preferred | 35 | ||
| ALS Panel | ALS2, CHCHD10, DCTN1, FUS, KIF5A, OPTN, PFN1, SETX, SOD1, SPG11, TARDBP, TBK1, TFG, UBQLN2, VAPB, VCP, CHMP2B, MATR3, SIGMAR1, SQSTM1 | Mandatory | 20 | ||
| Frontotemporal Dementia Panel | CHCHD10, DCTN1, FUS, GRN, MAPT, TARDBP, TBK1, UBQLN2, VCP, CHMP2B, HNRNPA2B1, PSEN1, SQSTM1 | Mandatory | 18 | ||
| C9orf72 Gene | C9ORF72 | Preferred | 18 | ||
| Spinal Bulbar Muscular Atrophy | AR gene | Preferred | 9 | ||
| Myotonic Dystrophy Type 1 | DMPK | Preferred | 18 | ||
| Myotonic Dystrophy Type 2 | CNBP | Preferred | 9 | ||
| Huntington Disease | HTT | Preferred | 35 | ||
| CADASIL | NOTCH3, HTRA1 | Mandatory | 9 | ||
| Inherited Alzheimer disease | APP, PSEN1, PSEN2 | Mandatory | 9 | ||
| Hereditary Spastic Paraplegia Panel | ABCD1, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, B4GALNT1, BSCL2, C12orf65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, HEXA, HSPD1, KDM5C, KIF1A, KIF1C, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, REEP2, RTN2, SACS, SLC16A2, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, VAMP1, WASHC5, ZFYVE26 | Mandatory | 18 | ||
| Pulmonary Hypertension | ACVRL1, BMPR2, CAV1, ENG, SMAD9 | Mandatory | 2 | ||
| Malignant Hyperthermia | CACNA1S, RYR1, STAC3 | Mandatory | 9 | ||
| Macular Dystrophies Panel | ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CFH, CNGB3, CRB1, CTNNA1, EFEMP1, ELOVL4, FSCN2, GUCA1B, HMNCN1, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RBP3, RDH12, RLBP1, RPIl1, RPGR, RPGRIP1, RS1, TIMP3 | Mandatory | 9 | ||
| Retinitis Pigementosa Panel | up to 80 genes | Mandatory | 18 | ||
| Familial Hypocalciuric Hypercalecemia | AP2S1, CASR, GNA11 | Mandatory | 27 | ||
| Maturity Onset Diabetes of the Young | ABCC8, APPL1, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NUEROD1, PAX4, PDX1 | Mandatory | 9 | ||
| Acute hepatic porphyria | ALAD, CPOX, HMBS, PPOX | Mandatory | 4 | ||
| Myopathy panel | Mandatory | 9 | |||
| Primary Immunodeficiences | Mandatory | 9 | |||
| Focal Segmental Glomerulosclerosis | Preferred | 3 | |||
| Carrier Screen | CFTR, SMN1, FMR1 | Preferred | 35 | ||
| Expanded Carrier Screen | ABCC8, ABCD1, ACADM, ASPA, ASS1, BCKDHA, BCKDHB, BLM, CFTR, CLN3, CLRN1, DHCR7, DLD, DMD, ELP1, FAH, FANCC, FKTN, FMR1, G6PC, GAA, GALC, GALT, GBA, GJB2, HBA1, HBA2, HBB, HEXA, IDUA, IL2RG, MCOLN1, NEB, OTC, PAH, PCDH15, PEX1, PEX6, PEX7, PKHD1, PMM2, SLC26A4, SMN1, SMPD1, TMEM216, USH2A | Preferred | 35 | ||
| Connective tissue panel/aortopathies | ABCC6, ACTA2, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1E1, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, P3H1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SGMS2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 | Mandatory | 209 | ||
| Decreased Bone Density Panel/Osteogenesis imperfecta | ALPL, ANO5, B4GALT7, BMP1, CLCN5, COL1A1, COL1A2, CRTAP, DMP1, ENPP1, FGF23, FKBP10, GNAS, GORAB, IFITM5, LMNA, LRP5, MAFB, MMP2, NOTCH2, P3H1, PHEX, PLOD2, PPIB, SERPINF1, SERPINH1, SLC34A3, SP7, SPARC, TMEM38B, TNFRSF11A, WNT1 | Mandatory | 9 | ||
| Mitochondrial Panel | AAAS, AARS, AARS2, AASS, ABAT, ABCB11, ABCB4, ABCB6, ABCB7, ABCB8, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABHD5, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACHE, ACLY, ACO2, ACSF3, ACSL4, ACSL5, ACSM3, ADSL, AFG3L2, AGK, AGL, AGPS, AGXT, AGXT2, AIFM1, AK2, AK3, AKAP10, AKR7A2, AKT1, AKT2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, AMT, ANK2, ANKRD26, APOPT1, APTX, ARG1, ARMS2, ARX, AS3MT, ASL, ASS1, ATAD3A, ATAD3B, ATIC, ATP10D, ATP5F1A, ATP5F1B, ATP5F1E, ATP7B, ATP8B1, ATPAF2, ATXN7, AUH, B4GALT1, BAX, BCAT1, BCAT2, BCKDHA, BCKDHB, BCL2, BCS1L, BOLA3, C12orf65, C19orf12, CA5A, CACNA1A, CACNA1S, CACNA2D1, CARS2, CASP8, CCT7, CDC42BPB, CDKL5, CFTR, CHAT, CHCHD10, CHDH, CHKB, CHRNA4, CHRNB2, CISD2, CKM, CKMT1B, CLCN1, CLCN2, CLCN5, CLCN7, CLCNKB, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLYBL, CNR1, COA5, COA6, COASY, COG4, COG5, COG6, COG7, COG8, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7A1, COX7A2, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1B, CPT2, CTSD, CYB5A, CYB5R3, CYBA, CYBB, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDAH1, DDC, DDHD1, DDHD2, DDOST, DECR1, DGUOK, DHODH, DHTKD1, DIABLO, DISC1, DLAT, DLD, DMAC2, DMGDH, DNA2, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, DTNBP1, EARS2, ECHS1, ECI1, ECSIT, ELAC2, ELN, ENO1, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAAH, FAH, FARS2, FASN, FASTKD2, FBP1, FBXL4, FDPS, FDX2, FECH, FH, FLAD1, FOLR1, FOXC1, FOXG1, FOXRED1, FTH1, FXN, G6PC, G6PD, GAA, GAD1, GAD2, GALC, GAMT, GARS, GATD3A, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLO1, GLRA1, GLRX5, GLS, GLUD1, GLYCTK, GMPPA, GNAS, GNPAT, GPAM, GPD1, GPD2, GPI, GPX1, GPX4, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, H6PD, HADH, HADHA, HADHB, HARS, HARS2, HCCS, HCFC1, HIBCH, HIGD2A, HK1, HK2, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPB7, HSPD1, HSPE1, HTRA2, IARS2, IBA57, IDE, IDH1, IDH2, IDH3B, IMMP2L, IMMT, INPP5E, INSR, ISCA2, ISCU, IVD, KARS, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ11, KCNJ2, KCNQ1, KCNQ2, KCNQ3, KIF1B, KRT5, KYNU, L2HGDH, LAMP2, LARS, LARS2, LDHA, LDHB, LETM1, LIAS, LIPT1, LMBRD1, LRPPRC, LRRK2, LYRM4, LYRM7, MAOA, MAOB, MARS, MARS2, MAVS, MCCC1, MCCC2, MCEE, MDH1, MECP2, MECR, MED23, MEN1, MFF, MFN2, MFSD8, MGAT2, MGLL, MGME1, MGST3, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL12, MRPL15, MRPL19, MRPL3, MRPL43, MRPL44, MRPL48, MRPL57, MRPS12, MRPS16, MRPS17, MRPS18A, MRPS22, MRPS7, MRRF, MTCH2, MTFMT, MTHFD1, MTHFD1L, MTO1, MTPAP, MTR, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB11, NDUFB3, NDUFB6, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NGLY1, NIPSNAP1, NIPSNAP3A, NLRX1, NME1, NNT, NOS3, NPL, NR2F1, NRXN1, NUBPL, OAT, OGG1, OPA1, OPA3, OTC, OXCT1, PACRG, PAH, PAK5, PANK2, PARL, PARP1, PARS2, PC, PCCA, PCCB, PCK1, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PKLR, PMM2, PNKD, PNMT, PNPT1, POLG, POLG2, POLRMT, PPARGC1A, PPOX, PPT1, PREPL, PRKAG2, PRKN, PRODH, PRPS1, PTGES2,REEP1, RFT1, RMND1, RMRP, RNASEL, RPL35A, RPS14, RRM2B, RSPH9, RYR1, RYR2, SACS, SARDH, SARS2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SHMT1, SHMT2, SIRT1, SIRT3, SIRT5, SLC16A1, SLC19A2, SLC19A3, SLC22A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A16, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A3, SLC25A32, SLC25A35, SLC25A38, SLC25A39, SLC25A4, SLC25A42, SLC25A5, SLC25A6, SLC27A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC3A1, SLC5A8, SLC6A8, SLC7A7, SOD2, SPART, SPAST, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSR4, STAR, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAP1, TARS2, TAT, TAZ, TCIRG1, TDP1, TFAM, TFB1M, TIMM13, TIMM44, TIMM50, TIMM8A, TIMM9, TK2, TKT, TMEM126A, TMEM165, TMEM70, TOMM40, TOP1MT, TP53, TPH2, TPI1, TPK1, TPP1, TRIT1, TRMU, TRNT1, TSFM, TSPO, TST, TTC19, TUFM, TWNK, TXN2, TXNRD2, TYMP, UBE3A, UCP1, UCP2, UCP3, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROS, USP24, VARS2, WARS2, WDR4, WFS1, WWOX, XPNPEP3, YARS2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY | Preferred | 18 | ||
| Comprehensive Metabolic Panel | ABCC8, ABCD1, ABCD4, ACAA1, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ACOX1, ACSF3, ACY1, ADAMTSL2, ADAR, ADSL, AGA, AGK, AGL, AGPAT2, AKT2, ALAD, ALAS2, ALDH5A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, ANO10, ANTXR2, APTX, ARG1, ARSA, ARSB, ASAH1, ASL, ASPA, ASS1, ATP13A2, ATP6V0A2, AUH, B3GLCT, B4GALT1, BCKDHA, BCKDHB, BSCL2, BTD, C12orf65, CA2, CACNA1S, CAV1, CAV3, CAVIN1, CBS, CD320, CKMT1A, CKMT1B, CKMT2, CLCN1, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CNNM1, CNNM2, CNNM4, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COQ2, COQ6, COQ8A, COQ9, CPOX, CPS1, CPT1A, CPT1B, CPT2, CTNS, CTSA, CTSC, CTSD, CTSK, DBT, DDOST, DGUOK, DHCR7, DHDDS, DLD, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYM, ECHS1, EGF, ENO3, EPM2A, ETFA, ETFB, ETFDH, FAH, FBP1, FBXL4, FECH, FH, FLNA, FLNB, FOLR1, FUCA1, FXYD2, G6PC, GAA, GALC, GALNS, GAMT, GATM, GBA, GBE1, GCDH, GCH1, GCK, GIF, GLA, GLB1, GLDC, GLUD1, GMPPA, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GPHN, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HCFC1, HEXA, HEXB, HFE, HGSNAT, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HRAS, HSD17B10, HSD17B4, HYAL1, IDS, IDUA, IFIH1, INSR, ISCU, IVD, KCNA1, KCNJ11, KCNJ2, L2HGDH, LAMA2, LAMP2, LDB3, LDHA, LIPA, LMBRD1, LMNA, LPIN1, MAGT1, MAN1B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFN2, MFSD8, MGAT2, MMAA, MMAB, MMACHC, MMADHC, MMGT1, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MTHFR, MTR, MTRR, MUT, MYOT, NAGLU, NAGS, NDUFS1, NEU1, NHLRC1, NIPA2, NPC1, NPC2, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PDX1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PLIN1, PLPBP, PMM2, POLG, POLG2, PPARG, PPOX, PPT1, PRKAG2, PRKAG3, PRODH, PSAP, PTS, PYGL, PYGM, QDPR, RAI1, RBCK1, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RPN2, RRM2B, RYR1, SAMHD1, SCN4A, SEC23B, SGSH, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A3, SLC25A4, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4, SLC3A1, SLC40A1, SLC41A2, SLC41A3, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPG7, SRD5A3, SSR4, STT3A, STT3B, SUCLA2, SUCLG1, SUMF1, SUOX, TAZ, TBC1D4, TCF4, TCN2, TFR2, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPP1, TREX1, TRPM6, TRPM7, TUSC3, TWNK, TYMP, UCP2, UROD, UROS, WFS1, ZMPSTE24 | Mandatory | |||
| Rhabdomyolysis Panel | ACAD9, ACADL, ACADM, ACADVL, AGL, AMPD1, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, RYR1, SUCLA2, TK2, TWNK, TYMP | Mandatory | 9 | ||
| Comprehensive Cardiac Panel | A2ML1, ABCC9, ACADVL, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR2B, ACVRL1, ADA2, AGL, AKAP9, ALMS1, ANK2, ANKRD1, APOA5, APOB, B4GALT7, BAG3, BBS10, BCOR, BMPR2, BRAF, C1R, C1S, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CAVIN4, CBL, CBS, CCDC103, CCDC39, CCDC40, CHD7, CHRM2, COL3A1, COL5A1, COL5A2, COX15, CPT1A, CPT2, CRELD1, CRYAB, CSRP3, CTF1, CTNNA3, DEPDC5, DES, DMD, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC11, DNAJC19, DNAL1, DOLK, DSC2, DSG2, DSP, DTNA, EFEMP2, ELAC2, ELN, EMD, ENG, EYA4, FBN1, FBN2, FGD1, FHL1, FHL2, FKRP, FKTN, FLNA, FLNC, FOXH1, FXN, GAA, GATA4, GATA6, GATAD1, GDF1, GJA1, GJA5, GLA, GPC3, GPD1L, GYG1, HAMP, HAND1, HCN4, HFE, HJV, HRAS, ILK, INVS, JAG1, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KRAS, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LMNA, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MFAP5, MIB1, MKS1, MMP21, MRPL3, MTO1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF1, NDUFB11, NEBL, NEK8, NEXN, NF1, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NPHP3, NPPA, NR2F2, NRAS, NSD1, OFD1, PCDH19, PCSK9, PDLIM3, PKD1L1, PKP2, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, PRRT2, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SDHA, SGCD, SHOC2, SKI, SLC22A5, SLC25A20, SLC2A1, SLC2A10, SLC40A1, SLMAP, SMAD3, SMAD4, SMAD6, SMAD9, SNTA1, SOS1, SOS2, SPRED1, SYNE1, TAZ, TBX1, TBX20, TBX5, TCAP, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTC8, TTN, TTR, TXNRD2, VCL, YWHAE, ZFPM2, ZIC3 | Mandatory | 27 | ||
| Exome Sequencing | All 22,000 Genes | Preferred | 25 | ||
| Whole Genome Sequencing | Preferred | 5 | |||
| Polygenic risk scores | breast cancer, prostate cancer, colon cancer, cardiovascular | Preferred | 300 | ||
| Pharmacogenetic | HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, NAT2, CYP2D6, TPMT, NUDT15, UGT1A1, DPYD, CYP2C9, CYP2C19, BCHE, CYP3A5, CYP4F2, VKORC1, SLO1B1 | Preferred | 50 | ||
| Pharmacogenetic | HLA-A, HLA-B, CYP2B6, CYP2D6, CYP2C9, CYP2C19, CYP3A5, CYP4F2, UGT1A1, TPMT, NUDT15, DPYD, CACNA1S, RYR1, CFTR, IFNL3, IFNL4, G6PD, SLCO1B1, VKORC1, POLG, MT-RNR1, GBA, | Preferred | 50 | ||
| Paired tumor/germline | Following abnormal Lynch syndrome screening or VUS in multiple cancer types | Preferred | 100 | ||
| 6515 |
Sheet 3
File details come from the government source that posted it. Updated .