CLINICAL TEST PRICES BY DISEASE

Transcription

1 Targeted Testing of Familial Mutations 100 Single exon sequencing of gene $ Double exon sequencing of gene $ Triple exon sequencing of gene $390 Deletion/Duplication 600 acgh $990-1,490 3-M Syndrome 624 CUL7 Sequencing $1,340 Alpha Subunit-related Disorders 416 SC4NA Sequencing $1,430 Achondrogenesis 788 COL2A1 Sequencing $1, SLC26A2 Sequencing $570 Achromatopsia 695 Achromatopsia Sequencing Panel (CNGA3, CNGB3, GNAT2, PDE6C) $570-2, CNGA3 Sequencing $ CNGB3 Sequencing $ GNAT2 Sequencing $ PDE6C Sequencing $1,090 Aciduria 211 MMACHC Sequencing $490 August 15, 2012 Androgen Insensitivity Syndrome (AIS) 736 AR Sequencing $780 Arrhythmogenic Right Ventricular Cardiomyopathy 207 Sequential Testing of Four Desmosomal Genes (PKP2, DSP, DSG2, DSC2) $ DSC2 Sequencing $ DSG2 Sequencing $ DSP Sequencing $1, PKP2 Sequencing $ TMEM43 Sequencing $760 Arthrogryposis-Renal Dysfuction-Cholestasis Syndrome 591 VIPAR Sequencing $1, VPS33B Sequencing $1,090 Ataxia 917 SACS Sequencing $ ANO10 Sequencing $ MRE11A Sequencing $1090 Atelosteogenesis 782 SLC26A2 Sequencing $570 Autosomal Recessive Cutis Laxa type IIA and Wrinkly Skin Syndrome 1061 ATP6VOA2 Sequencing $1,210 Alagille Syndrome 427 JAG1 Sequencing $1,090 Alström Syndrome 265 ALMS1 Sequencing $1,990 Amyotrophic Lateral Sclerosis 155 ALS Gene Sequencing Panel (ALS, ALS2, ANG, FIG4, FUS, OPTN, STEX, SOD1, TARDPB, VAPB) $340-3, ALS2 Sequencing $1, ANG Sequencing $ FIG4 Sequencing $1, FUS Sequencing $ OPTN Sequencing $ SETX Sequencing $1, SOD1 Sequencing $ TARDPB Sequencing $ UBQLN2 Sequencing $ VAPB Sequencing $490 Autosomal Recessive Polycystic Kidney Disease 101 PKHD1 Sequencing $1, PKHD1 Sequencing Tier 1 only $1, PKHD1 Sequencing Tier 2 only $2,300 Bardet-Biedl Syndrome 251 Bardet-Biedl Syndrome Sequencing Panel (ARL6/BBS3, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS/BBS6, SDCCAG8, TRIM32/BBS11, TTC8/BBS8) $490-8, ARL6/BBS3 Sequencing $ BBS1 Sequencing $ BBS2 Sequencing $ BBS4 Sequencing $ BBS5 Sequencing $ BBS7 Sequencing $1, BBS9 Sequencing $1, BBS10 Sequencing $ BBS12 Sequencing $ MKKS/BBS6 Sequencing $580

2 659 SDCCAG8 $1, TRIM32/BBS11 Sequencing $ TTC8/BBS8 Sequencing $850 Barth Syndrome 149 TAZ Sequencing $640 Bethlem Myopathy 359 COL6A1-COL6A2-COL6A3 Sequential Sequencing $1,290-3, KRIT1/CCM1 Sequencing $ CCM2 Sequencing $ PDCD10/CCM3 Sequencing $ CCM2 Deletion Testing $ KRIT1/CCM1 Common Hispanic Mutation $190 Chediak-Higashi Syndrome 769 LYST Sequencing $2,430 CHARGE Syndrome 130 CHD7 Sequencing $1,890 Bloom s Syndrome 717 BLM Sequencing $1,240 Brachytactyly 136 ROR2 Sequencing $740 Camurati-Engelmann Disease 787 TGFB1 Sequencing $620 Cardiac Channelopathy 492 SCN5A Sequencing $1,460 Cardio-Facio-Cutaneous (CFC) Syndrome 110 BRAF, MAP2K1, MAP2K2, KRAS Panel $ BRAF Sequencing Tier 1 only $ MAP2K1, MAP2K2, KRAS Sequencing Tier 2 $ BRAF Sequencing (remaining exons) Test 2 $ KRAS Sequencing $440 Cardiomyopathy 147 ABCC9 Sequencing $1, PLN Sequencing $340 Cartilage-hair Hypoplasia 784 RMRP Sequencing $290 Catecholaminergic Polymorphic Ventricular Tachycardia 941 CASQ2 Sequencing $ CPVT Sequencing Panel $4, Sequential RYR2 Sequencing $1,640-3, RYR2 Sequencing Tier 1 Only $1, RYR2 Sequencing Tier 2 Only $3,070 Central Core Disease 570 RYR1 Sequencing $740 Childhood Recurrent Acute Myoglobinuria 369 LPIN1 Sequencing $1, LPIN1 Exons Deletion Test $190 Chondrodysplasia Punctata 813 ARSE Sequencing $620 Chromosomal Instaility Syndromes 1142 ERCC3 Sequencing $ XPA Sequencing $690 Ciliopathy 279 INPP5E Sequencing $690 Cleidocranial Dysplasia 786 RUNX2 Sequencing $820 Congenital Contractural Arachnodactyly 395 FBN2 Sequencing $2,190 Congenital Disorders of Glycosylation 540 Congenital Disorders of Glycosylation Panel 1 (PMM2, MPI, ALG6) $490-1, Congenital Disorders of Glycosylation Panel 2 (ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2) $470-3, ALG2 Gene Sequencing $ ALG3 Gene Sequencing $ ALG6 Gene Sequencing $ ALG8 Gene Sequencing $ ALG12 Gene Sequencing $ DPM1 Gene Sequencing $ DPM3 Gene Sequencing $ PMM2 Gene Sequencing $ MPDU1 Gene Sequencing $ MPI Gene Sequencing $490 Cerebral Cavernous Malformations Congenital Generalized Lipodystrophy 120 Sequential CCM Gene Testing $

3 463 Congenital Generalized Lipodystrophy Seq. Panel (AGPAT2, BSCL2) $640-1, AGPAT2 Sequencing $ BSCL2 Sequencing $740 Congenital Myofibrillar Myopathy 362 CRYAB Sequencing $370 Congenital Myasthenic Syndrome 412 Congenital Myasthenic Syndrome Panel (CHRNE, CHRNA1, CHRNB1, CHRND, MUSK, COLQ, CHAT, RAPSN) $540-5, CHAT Sequencing $ CHRNA1 Gene Sequencing $ CHRNB1 Gene Sequencing $ CHRND Gene Sequencing $ CHRNE Gene Sequencing $ COLQ Sequencing $ MUSK Sequencing $ DOK7 Sequencing $620 Conradi-Hunermann Syndrome Panel 781 NIPBL, SMC1A and SMC3 Sequencing $490 Cornelia de Lange Syndrome Panel 890 NIPBL, SMC1A, SMC3 Sequencing $1,210-$4,455 Costello Syndrome 140 HRAS Sequencing Panel (Tier 1, 2) $ HRAS Sequencing Tier 1 only $ HRAS Sequencing Tier 2 only $260 Cranioectodermal Dysplasia 623 IFT122 Sequecncing $1, WDR35 Sequencing $1,370 Creatine Deficiency Syndrome 241 GATM Sequencing $ GAMT Sequencing $590 Cutis Laxa, Type 1B 1062 EFEMP2 Sequencing $ Cystic Fibrosis 150 CFTR Sequencing + 5T/TG Tract Analysis $1,290 Danon Disease 418 LAMP2 Sequencing $620 Dentinogenesis Imperfecta 771 DSPP Sequencing $570 Denys-Drash Syndrome, Frasier Syndrome 1003 WT1 Sequencing $820 Diastrophic Dysplasia 782 SLC26A2 Sequencing $570 DICER1 Syndrome 1119 INPP5E Sequencing $1570 Disorder of Sex Development 735 HSD17B3 Sequencing $690 Distal Arthrogryposis 335 Distal Arthrogryposis Syndrome Sequencing Panel (MYH3, TNNI2, TNNT3) $530-3, MYH3 Gene Sequencing $ TNNI2 Gene Sequencing $ TNNT3 Gene Sequencing $820 Distal Myopathy 336 MATR Gene Sequencing $820 Duane-Radial Ray Syndrome 832 SALL4 Sequencing $680 Dynactin-Related Disorders 382 DCTN1 Sequencing $1,690 Dynamin-2 Related Disorders 914 DNM2 Sequencing $1,770 Dystonia 161 GCH1 Sequencing $ PNKD Sequencing $ PNKD Sequencing - Tier 1 only $ PNKD Sequencing - Tier 2 only $ SGCE Sequencing $ TH Sequencing $ TOR1A Sequencing $ TOR1A Sequencing - Tier 1 only $ TOR1A Sequencing Tier 2 only $290 Dystroglycanopathy 340 ADG Panel $4,275 Early Onset Myopathy 922 MEGF10 Sequencing $1,240 Ehlers-Danlos Syndrome 840 EDS Panel (COL5A1 & COL5A2) $2,260-4, COL5A1 Sequencing $2,470

4 842 COL5A2 Sequencing $2, COL3A1 Sequencing $ PLOD Sequencing $1, TNXB Sequencing $530 Ellis-van Creveld Syndrome 783 EVC, EVC2 Sequencing $1,090-2, EVC Sequencing $1, EVC2 Sequencing $970 Emberger Syndrome 286 GATA2 Sequencing $530 Escobar Variant, Multiple Pterygrim Syndrome 405 CHRNG Sequencing $730 Eye Diseases 696 ABCA4 Sequencing $2, CNGA1 Sequencing $ CNGB1 Sequencing $1, COL18A1 Sequencing $1, CRB1 Sequencing $1, CRX Sequencing $ IMPDH1 Sequencing $ NR2E3 Sequencing $ PDE6A Sequencing $1, PDE6B Sequencing $1, PRPF3 Sequencing $ PRPF8 Sequencing $190-1, PRPF31 Sequencing $ PRPH2 Sequencing $ RHO Sequencing $ RP1 Sequencing $1, RPE Sequencing $ TULP1 Sequencing $640 Fabry Disease 471 GLA Sequencing $490 Familial Adenomatous Polyposis 710 APC Sequencing $1,590 Familial Hemophagocytic Lymphohistiocytosis 215 Familial Hemophagocytic Lymphohistiocytosis Panel (FHL Panel: PRF1, UNC13D, STX11, STXBP2, RAB27A) $440-3, PRF1 Sequencing $ RAB27A Sequencing $ STX11 Sequencing $ STXBP2 Sequencing $1, UNC13D Sequencing Tier 1 $ UNC13D Sequencing Tier 2 $890 Familial Limb Girdle Myasthenic Syndrome 408 AGRN Sequencing $1, DOK7-AGRN-GFPT1 Panel $ GFPT1 Sequencing $ DOK7 Sequencing $620 Fanconi Anemia 720 Fanconi Anemia Panel (FANCA, FANCC, FANCG) $820-2, BRIP1/FANCJ Sequencing $1, FANCA Sequencing $1, FANCB Sequencing $ FANCC Sequencing $ FANCD2 Sepuencing $1, FANCE Sequencing $ FANCF Sequencing $ FANCG Sequencing $ FANCI Sequencing $1, FANCL Sequencing $ FANCM Sequencing $1, PALB2/FANCN Sequencing $ FANCP/SLX4 Sequencing $1,770 Fanconi Anemia-Like Disorder 882 RAD51C Sequencing $660 Fanconi-Bickel Syndrome (GSD, Type XI) 170 SLC2A2 Sequencing $650 Farber Lipogranulomatosis 481 ASAH1 Sequencing $820 Fatty Acid Oxidation Disorders 180 ACADM Sequencing $ ACADM Sequencing - Tier 1 only $ ACADM Sequencing - Tier 2 only $ ACADS Sequencing $ ACADVL Sequencing $740 Fructose-1,6-Bisphosphatase Deficiency 238 FBP1 Sequencing $590 Galactosemia 201 GALT Sequencing $440 GDF5-related Disorders 852 GDF5 Sequencing $440

5 Giant Axonal Neuropathy 918 GAN Sequencing $820 Glutaric Acidemia I 210 GCDH Sequencing $ CCBE1 Sequencing $690 Hereditary Breast and Ovarian Cancers 714 CHEK2 Sequencing $ BARD1 Sequencing $900 Glycogen Storage Disease 220 GYS2 Sequencing (Type 0) $ G6PC Sequencing (Type Ia) $ SLC37A4 Sequencing (Type Ib) $ GAA Sequencing (Type II) $ AGL Sequencing (Type III) $1, GBE1 Sequencing (Type IV) $ LAMP2 Sequencing (Type IIb) $ PYGM Sequencing (Type V) $ PYGM Sequencing (Type V) Tier 1 only $ PYGM Sequencing (Type V) Tier 2 only $ PYGL Sequencing (Type VI) $1, PFKM Sequencing (Type VII) $1, PHKA1 Sequencing (Type IX) $1, PHKA2 Sequencing (Type IX) $490 1, PHKB Sequencing (Type IX) $1, PHKG2 Sequencing (Type IX) $490 Glycyl trna Synthetase-Related Disorders 383 GARS Sequencing $940 GM1 Gangliosidosis/Morquio Syndrome Type B 477 GLB1 Sequencing $840 Hereditary Diffuse Gastric Cancer 798 CDH1 Sequencing $980 Hereditary Hemorrhagic Telangiectasia 860 Hereditary Hemorrhagic Telangiectasia Sequencing Panel (ENG,ACVRL1/ALK1,SMAD4) $690-1, ENG Sequencing $ ACVRL1/ALK1 Sequencing $690 Hereditary Lymphedema 285 GJC2 Sequencing $480 Hereditary Multiple Osteochondromas (HMO) 806 EXT1 and EXT2 Sequencing $820-1, EXT1 Sequencing $ EXT2 Sequencing $820 Hereditary Paraganglioma- Pheochromocytoma Syndrome 1134 SDHAF2 $ TMEM127 $390 Hereditary Sensory Neuropathy 915 DNMT1 Sequencing $2,025 Griscelli Syndrome 213 RAB27A Sequencing $490 3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency 240 HMGCL Sequencing $590 3-Methylcrotonyl-CoA Carboxylase Deficiency 320 Sequential Gene Sequencing $840-1, MCCC2 Sequencing $ MCCC1 Sequencing $990 3-Methylglutaconic Aciduria Type I 323 AUH Sequencing $690 Heat Shock 22/27 kda Protein-Related Disorders 387 HSPB1 Sequencing $ HSPB8 Sequencing $440 Hennekam Lymphangiectasia-Lymphedema Syndrome Hermansky-Pudlak Syndrome 760 Hermansky-Pudlak Syndrome Panel (HPS1, AP3B1/HPS2, HPS3, HPS4, HPS5, HPS6, DTNBP1/HPS7, BLOC1S3/HPS8) $890-5, HPS1 Sequencing $ AP3B1 Sequencing (Type 2) $1, HPS3 Sequencing (Type 3) $ HPS4 Sequencing (Type 4) $ HPS5 Sequencing (Type 5) $1, HPS6 Sequencing (Type 6) $ DTNBP1 Sequencing (Type 7) $ BLOC1S3 Sequencing (Type 8) $390 Heterotaxy 937 GDF1 Sequencing $ LEFTY2 Sequencing $ ZIC3 Sequencing $ ACVR2B Sequencing $ NODAL Sequencing $540

6 Hirschsprung Disease 791 RET Sequencing $1,130 Holoprosencephaly 580 Holoprosencephaly Sequential (SHH, ZIC2, SIX3,TGIF1, GLI2, PTCH1) $390-3, GAS1 Sequencing $ GLI2 Sequencing $1, PTCH1 Sequencing $1, SHH Sequencing $ SIX3 Sequencing $ TGIF1 Sequencing $ ZIC2 Sequencing $ DISP1 Sequencing $960 Holt-Oram Syndrome 785 TBX5 Sequencing $640 Hypertrophic Cardiomyopathy 190 Sequential Testing of Eight Sarcomeric Genes $5, MYBPC3-MYH7 Sequencing $2, MYL2-MYL3-ACTC1 Sequencing $1, TNNT2-TNNI3-TPM1 Sequencing $1, ACTC1 Sequencing $ ACTN2 Sequencing $1, CSRP3 Sequencing $ MYH7 Sequencing $ MYL2 Sequencing $ MYL3 Sequencing $ TNNC1 Sequencing $ TNNI3 Sequencing $ TNNT2 Sequencing $ TPM1 Sequencing $ VCL Sequencing $1,170 Hypochondroplasia 428 FGFR3 Sequencing Hypochondroplasia $490 Hypophosphatasia 851 ALPL Sequencing $780 Inclusion Body Myopathy 367 GNE Sequencing $ MYH2 Sequencing $1, ZFPM2/FOG2 $840 Isovaleric Acidemia 250 IVD Sequencing $590 Joubert Syndrome 294 Joubert Syndrome Panel (AHI1, TMEM67, CEP290, NPHP1, CC2D2A, INPP5E, ARL13B, TMEM216) $290-9, AHI1 Sequencing $1, ARL13B Sequencing $ CC2D2A Sequencing $1, CEP290 Sequencing $2, INPP5E Sequencing $ TMEM67/MKS3 Sequencing $1, NPHP1 Deletion Testing $ NPHP1 Sequencing $1, RPGRIP1L Sequencing $1, TCTN2 Sequencing $ TMEM216 Sequencing $460 Junctional Epidermolysis Bullosa 975 JEB Sequencing Panel $5, LAMA3 Sequencing $1, LAMB3 Sequencing $1, LAMC2 Sequencing $1, COL17A1 Sequencing $2,270 Juvenile Polyposis Syndrome (JPS) 708 BMPR1A Sequencing $ SMAD4 Sequencing $690 Kniest Dysplasia 788 COL2A1 Sequencing $1,990 Krabbe Disease 631 GALC Sequencing $ GALC Deletion Test $190 L1 Syndrome 304 L1CAM Sequencing $1,280 Leber Congenital Amaurosis 681 CRB1 Sequencing $1, CRX Sequencing $ RDH12 Sequencing $570 Isolated Nonsyndromic Congenital Heart Defects 943 GATA4 Sequencing $ NKX2-5 $380 Lethal Arthrogryposis with Anterior Horn Cell Disease 590 GLE1 Sequencing $1,020

7 CLINICAL TEST PRICES BY DISEASE Leukocyte Adhesion Deficiency 516 SLC35C1 Sequencing $440 Li-Fraumeni Syndrome 713 TP53 Sequencing $660 Limb Girdle Muscular Dystrophy 469 ANO5/TMEM16E Sequencing $1, ANO5 Sequencing $ CAPN3 Sequencing $ CAV3 Sequencing $ DNAJB6 Sequencing $ DOK7 Sequencing $ DYSF Sequencing $ FKRP Sequencing $ LMNA Sequencing $ MYOT/TTID Sequencing $ PLEC1 Sequencing (Type 2Q) $ SGCA Sequencing $ SGCB Sequencing $ SGCD Sequencing $ SGCE Sequencing $ SGCG Sequencing $ TCAP Sequencing $ TTN Sequencing $1290 Lysosomal Storage Disorders 477 GLB1 Sequencing $ HEXB Sequencing Tier 1 only $840 Macrocephaly, Alopecia, Cutis Laxa and Scoliosis 1064 RIN2 Sequencing $980 Male and Female Infertility 734 FSHB Sequencing $390 Male Infertility 731 AURKC Sequencing $540 Malignant Hyperthermia /Central Core Disease 570 Sequential RYR1 Sequencing $740 3, RYR1 Sequencing Tier 1 only $ RYR1 Sequencing Tier 2 only $3,790 Maple Syrup Urine Disease 525 Maple Syrup Urine Disease Panel (BCKDHA, BCKDHB, DBT) $640-1, BCKDHA Sequencing $ BCKDHB Sequencing $ DBT Sequencing $ DLD Sequencing $860 Lissencephaly 502 ARX Sequencing $ DCX Sequencing $ PAFAH1B1/LISI Sequencing $ RELN Sequencing $2, TUBA1A Sequencing $ YWHAE Sequencing $520 Loeys-Dietz Syndrome 396 TGFBR1 Sequencing $ TGFBR2 Sequencing $710 Lujan Syndrome 398 MED12 Sequencing $1,960 Lynch Syndrome 701 MLH1 Sequencing $1, MLH3 Sequencing $1, MSH2 Sequencing $1, MSH6 Sequencing $1, PMS1 Sequencing $ PMS2 Sequencing $980 Lymphedema 280 FOXC2 Sequencing $ FLT4 Sequencing Tier 1 only $ FLT4 Sequencing Tier 2 only $ SOX18 Sequencing $490 Marfan Syndrome 394 FBN1 Sequencing $2,190 Meckel Gruber Syndrome 295 Meckel-Gruber Syndrome Sequencing Panel (MKS1, TMEM67, CC2D2A, RPGRIP1L, CEP290) $840-6, CC2D2A Sequencing $1, CEP290 Sequencing $2, MKS1 Sequencing $ RPGRIP1L Sequencing $1, TMEM67/MKS3 Sequencing $1,290 Megalencephalic Leukoencephalopathy 602 HEPACAM Sequencing $ MLC1 Sequencing $740 Menkes Disease and Hereditary Motor Neuropathy 464 ATP7A Sequencing $1,240 Megalencephalic Leukoencephalopathy 950 ORC1, ORC4, ORC6, CDT1, CDC6 Sequencing $590 -$3,390 Mental Retardation 564 ADSL Sequencing $ CUL4B Sequencing $1, OPHN1 Sequencing $1,320

8 CLINICAL 562 SLC9A6 Sequencing TEST PRICES BY $790 DISEASE 134 VPS13B Sequencing $2,990 Metachromatic Leukodystrophy 621 Metachromatic Leukodystrophy Sequencing Panel (ARSA, PSAP) $490-1, ARSA Sequencing $ PSAP Sequencing $790 Methylmalonic Acidemia 310 Sequential Gene Sequencing $790-1, LMBRD1 Sequencing $ MUT Sequencing $ MMAA Sequencing $ MMAB Sequencing $ MMADHC $570 Methylmalonic Aciduria 325 MMA Panel Sequencing $480-1,690 Microcephaly 293 WDR62 Sequencing $1,440 Mucolipidosis 316 GNPTAB Sequencing $1, GNPTG Sequencing $470 Mucopolysaccharidosis 452 Type I IDUA Sequencing $ Type II IDS Sequencing $ Type IIIA SGSH Sequencing $ Type IIIB NAGLU Sequencing $ Type IIIC HGSNAT Sequencing $ Type IIID GNS Sequencing $ Type IVA GALNS Sequencing $ Type VI ARSB Sequencing $ Type VII GUSB Sequencing $ Type IX HYAL1 Sequencing $540 Multiminicore, Rigid Spine Muscular Dystrophy 330 SEPN1 Sequencing $ TPM3 Sequencing $570 Multiple Carboxylase Deficiency 520 BTD Sequencing $ HLCS Sequencing $740 Mulitple Endocrine Neoplasia 716 CDKN1B Sequencing $ MEN1 Sequencing $ Type 2A - RET Sequencing t Tier 1 $ Type 2A - RET Sequencing Tier 2 $1, Type 2B - RET Sequencing $340 Multiple Epiphyseal Dysplasia 815 Multiple Epiphyseal Dysplasia Panel (COMP,MATN3,SLC26A2,COL9A1, COL9A2,COL9A3) $570-5, SLC26A2 Sequencing $ COMP Sequencing $ MATN3 Sequencing $ COL9A2 Sequencing $1, COL9A3 Sequencing $1,460 Multiple Pterygium Syndrome 415 CHRNA1, CHRND, CHRNG Sequencing $ CHRNG Sequencing $730 Multiple Sulfatase Deficiency 512 SUMF1 Sequencing $590 Muscular Dystrophy 360 Autosomal Recessive Limb Girdle Muscular Dystrophy Sequencing Panel (ANO5, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FKRP, TTN ) $390-7, Dystroglycanopathy Panel (FKRP, FKTN, POMT1, POMT2, POMGnT1, LARGE DAG1) $390 4, BAG3 Sequencing $ CAPN3 Sequencing $1, CAV3 Sequencing $ CHKB Sequencing $ DAG1 Sequencing $ DOK7 Sequencing $ DYSF Sequencing $2, EMD Sequencing $ FKRP Sequencing $ FKTN Sequencing $ FKTN Japanese Founder Mutation $ ITGA7 Sequencing $1, LAMA2 Sequencing $2, LAMA2: Mexican Exon 55 Mutation $ LARGE Sequencing $ LMNA Sequencing $ MYOT Sequencing $ POMT1 Sequencing $ POMT2 Sequencing $ POMGNT1 Sequencing $ SEPN1 Sequencing $ SGCA Sequencing $ SGCB Sequencing $ SGCD Sequencing $ SGCG Sequencing $ SYNE1 Sequencing $6, SYNE1 Seq. French Canadian Mutation Panel (exons 2-146) $ TCAP Sequencing $ TTN Sequencing exons $1,290 MUTYH Associated Polyposis (MAP) Syndrome 706 MUTYH Sequencing $780

9 CLINICAL Myopathy TEST PRICES BY DISEASE 329 Congenital Fiber Type Disproportion Panel (TPM3, RYR1, SEPN1, ACTA1, TPM2) $530-5, ACTA1 Sequencing $ SEPN1 Sequencing $ TPM2 Sequencing $ RYR1 Sequencing $ TPM3 Sequencing $570 Minicore Myopathy Panel 330 SEPN1 Sequencing $ RYR1 Sequencing $740 Central Core Disease 570 RYR1 Sequencing $ Nemaline Myopathy Panel (ACTA1, NEB, NEBx55 Del, TPM2, TPM3, TNNT1, CFL2) $530-8, KBTBD13 Sequencing $ ACTA1 Sequencing $ CFL2 Sequencing $ NEB Sequencing $3,245-6, NEB Exon 55 Deletion Test $ TNNT1 Sequencing $ TPM2 Sequencing $ Myofibrillar Myopathy Panel (BAG3, CRYAB, DES, FLNC, LDB3, MYOT) $370-4, BAG3 Sequencing $ CRYAB Sequencing $ DES Sequencing $ FLNC Sequencing $2, LDB3 (ZASP) Sequencing $ MYOT Sequencing $590 Distal Neuronopathy 387 HSPB1 Sequencing $ HSPB8 Sequencing $ GARS Sequencing $ BSCL2 Sequencing $ MATR3 Sequencing $ GNE Sequencing $ VCP Sequencing $ MYH2 Sequencing $1, TPM3 Sequencing $ PNPLA2 Sequencing $760 Nephronopthisis 660 Nephronophthisis Sequencing Panel (NPHP1, INVS/NPHP2, NPHP3, NPHP4, IQCB1/NPHP5, CEP290/NPHP6, GLIS2/NPHP7, RPGRIP1L/NPHP8, NEK8/NPHP9 SDCCAG8) 540-9, GLIS2/NPHP7 Deletion Test $ INVS/NPHP2 Deletion Test $ IQCB1/NPHP5 Deletion Test $ NEK8/NPHP9 Sequencing $ NPHP1 Deletion Test $ NPHP1 Sequencing $1, NPHP3 Sequencing $1, NPHP4 Sequencing $1, SDCCAG8 Sequencing $1, XPNPEP3 Sequencing $690 Nevoid Basal Cell Carcinoma Syndrome 585 PTCH1 Sequencing $1290 Neurofibromatosis 117 NF1 Sequencing $2, NF2 Sequencing $ SPRED1 Sequencing $540 Neurofibromatosis-Noonan Syndrome 115 NF1 Sequencing Tier 1 $ NF1 Sequencing Tier 2 $2,490 Neutropenia 445 Severe Congenital Neutropenia Panel (ELANE,HAX1,G6PC3,GFI1,WAS) $190-2, G6PC3 Sequencing $ ELANE Sequencing $ HAX1 Sequencing $ GFI1 Sequencing $560 Niemann-Pick Disease 473 NPC1 Sequencing $1, NPC2 Sequencing $490 Nijmegen Breakage Syndrome 797 NBN Sequencing $1090 Noonan Syndrome / LEOPARD Syndrome 370 Sequential (PTPN11, SOS1, RAF1, KRAS) $390-1, Sequential Tier 1 only $ Sequential Tier 2 only $1, Noonan PTPN11 Sequencing $ Noonan PTPN11 Sequencing Tier 1 $ Noonan PTPN11 Sequencing Tier 2 $ RAF1 Sequencing $ SOS1 Sequencing $590-1, LEOPARD PTPN11 Sequencing $ KRAS Sequencing $ NF1 Sequencing Panel $ NRAS Sequencing $ SHOC2 Sequencing $660 Oligodontia-Colorectal Cancer 719 AXIN2 Sequencing $790 Oral-Facial-Digital Syndrome Type OFD1 Sequencing $1,320 Osteoarthritis 788 COL2A1 Sequencing $1,990 Ovarian Disorders

10 732 FSHR Sequencing Ovarian Dysgenesis 1 $ FSHR Sequencing Ovarian Hyperstimulation Syndrome $820 Ovarian Dysgenesis 733 BMP15 Sequencing Ovarian Dysgenesis 2 $440 Paget Disease 850 SQSTM1-TNFRSF11A Sequencing $690-1, SQSTM1 Sequencing $ TNFRSF11A Sequencing $ TNFRSF11B Sequencing $490 Pallister-Hall/Greig Cephalopolysyndactyly 380 GLI3 Sequencing $1,090 Palmoplantar Keratoderma 208 JUP Sequencing $730 Papillon-Lefevre Syndrome 772 CTSC Sequencing $570 Pena-Shokeir Syndrome, Type DOK7-RAPSN Sequencing Panel (RAPSN, DOK7) $540-$1,060 Peutz-Jeghers Syndrome 711 STK11 Sequencing $ TSEN2 Sequencing $ TSEN34 Sequencing $440 Primary Ciliary Dyskinesia (PCD) 750 Primary Ciliary Dyskinesia Panel (DNAH5, DNAI1, CCDC39, CCDC40, DNAI2, DNAH11, RSPH9, RSPH4A, KTU/C14orf104, LRRC50, TXNDC3, DNAL1, RPGR, OFD1) $490-14, Kartagener s Syndrome or Heterotaxy with Chronic Respiratory Infections Gene Sequencing Panel (DNAH5, DNAI1, CCDC39, CCDC40, DNAI2, DNAH11, KTU/C14orf104, LRRC50, TXNDC3) $490-11, CCDC39 Sequencing $ CCDC40 Sequencing $1, DNAH5 Sequencing $3, DNAH5 Sequencing Tier 1 Only $ DNAH5 Sequencing Tier 2 Only $3, DNAH11 Sequencing $3, DNAI1 Sequencing $1, DNAI2 Sequencing $ KTU / C14orf104 Sequencing $ DNAL1 Sequencing $ LRRC50 Sequencing $ OFD1 Sequencing $1, RPGR Sequencing $1, RSPH4A Sequencing $ RSPH9 Sequencing $ TXNDC3 Sequencing $820 Phenylalanine Hydroxylase Deficiency (PKU) 530 PAH Testing $690 Plectinopathy 593 PLEC Sequencing $2,460 Piebaldism and Familial Gastrointestinal Stromal Tumors (GISTs) 718 KIT Sequencing $1,060 Pituitary Dwarfism 627 GHR Sequencing $820 PLP1 related Disorders 307 PLP1 Sequencing $530 Polymicrogyria 299 GPR56 Sequencing $840 Popliteal Pterygium Syndrome 896 IRF6 Sequencing $590 Pontocerebellar Hypoplasias 298 TSEN54 Sequencing $880 Primary Pulmonary Hypertension 801 BMPR2 Sequencing $980 Progeria, Hutchinson-Gilford 347 LMNA Sequencing $590 Progressive Bulbar Palsy 417 C20orf54 Sequencing $540 Propionic Acidemia 390 Sequential Gene Sequencing PCCA, PCCB $790-1, PCCA Sequencing $1, PCCB Sequencing $790 PTEN Hamartoma Tumor Syndrome 707 PTEN Sequencing $690 Rapsyn-Related Disorders 466 RAPSN Sequencing $590 Restrictive Dermopathy, Mandibuloacral Dysplasia 400 ZMPSTE24 Sequencing $690

11 Retinoblastoma 795 RB1 Sequencing $1570 Robinow Syndrome, Autosomal Recessive 136 ROR2 Sequencing $740 Roberts Syndrome 836 ESCO2 Sequencing $ TIMP3 Sequencing $490 Sotos Syndrome 132 NSD1 Sequencing $1,590 Sphingolipidoses 620 ARSA Sequencing $ GBA Sequencing $630 Sandhoff Disease 476 HEXB Sequencing $840 Schimke Immunoosseous Displasia 1031 SMARCAL1 Sequencing $1,130 Seipin-Related Disorders 461 BSCL2 Sequencing $740 Short Stature 802 COL10A1 Sequencing $ FGFR3 Sequencing Achondroplasia $ FGFR3 Sequencing Thanatophoric Dysplasia $ FGFR3 Sequencing Achondroplasia/ Hypochondroplasia $ GHSR Sequencing $ LHX4 Sequencing $ SHOX Sequencing $470 Sialuria 368 GNE, Exon 5 Sequencing $190 Sick Sinus Syndrome 947 HCN4 Sequencing $980 Simpson-Golabi-Behmel Syndrome 563 GPC3 Sequencing $590 Skeletal Disorders 420 Sequential Test (DLL3, MESP2, LFNG) $540-1, DLL3 Sequencing $ GDF6 Sequencing $ LFNG Sequencing $ MESP2 Sequencing $440 Small Patella Syndrome 859 TBX4 Sequencing $590 Smith-Lemli-Opitz Syndrome 410 DHCR7 Sequencing $440 Sorsby Fundus Dystrophy Spinal Muscular Atrophy with Respiratory Distress Type IGHMBP2 Sequencing $910 Spondylo-Meta-Epiphyseal Dysplasia 625 DDR2 Sequencing $910 Spondyloepiphyseal Dysplasia 788 COL2A1 Sequencing $1,990 Spondyloperipheral Dysplasia (SPD) 830 Stickler Syndrome Sequencing Panel (COL2A1, COL11A1, COL11A2) $1,990-5, COL2A1 Sequencing $1, COL2A1 Sequencing Tier 1 Only $ COL2A1 Sequencing Tier 2 Only $1,840 Stickler Syndrome 788 COL2A1 Sequencing for Type I $1, COL9A1 Sequencing Tier 2 Only $1, COL11A1 Sequencing $2, COL11A2 Sequencing $2.090 Stuttering 315 Stuttering Panel (GNPTAB, GNPTG, NAGPA) $1, GNPTAB Sequencing $1, GNPTG Sequencing $ NAGPA Sequencing $690 Tay-Sachs Disease 478 GM2A Sequencing $ HEXA Sequencing $770 Thrombocytopenia 430 ADAMTS13 Sequencing $1, GATA1 Sequencing $ Bernard-Soulier Sequential (GP1BA, GP1BB, GP9) $ GP1BA Sequencing $ GP1BB Sequencing $ GP9 Sequencing $ MASTL Sequencing $ MYH9 Sequencing Tier 1 $ MYH9 Sequencing Tier2 $ MPL Sequencing $640

12 Test No. Test Name Price 439 RUNX1 Sequencing $ WAS Sequencing $540 Townes-Brocks Syndrome 835 SALL1 Sequencing $840 TP63-Related Disorders 834 TP63 Gene Sequencing $840 Tricho-rhino-phalangeal Syndrome 814 TRPS1 Sequencing $820 Trimethylaminuria 324 FMO3 Sequencing $670 Tropomyosin 3-Related Myopathies 357 TPM3 Sequencing $570 TRPV4-related Disorders 833 TRPV4 Sequencing $860 Tuberous Sclerosis Complex 1001 TSC1 Sequencing $ TSC2 Sequencing $1890 Tyrosinemia 541 FAH Sequencing $1280 Ullrich Congenital Muscular Dystrophy 359 COL6A1-COL6A2-COL6A3 Sequential Sequencing $1,290-3,890 Urea Cycle Disorders 552 ARG1 Sequencing $ ASS1 Sequencing $ CPS1 Sequencing $1, NAGS Sequencing $ OTC Sequencing $540 Usher Syndrome Type Usher Syndrome Type 1 Sequencing Panel (MYO7A, CDH23, PCDH15, USH1C) $1,320-7, CDH23 Sequencing $2, MYO7A Sequencing $2, PCDH15 Sequencing $1, USH1C Sequencing $1, USH1G Sequencing $540 Usher Syndrome Type DFNB31 Sequencing $ GPR98 Sequencing $ USH2A Sequencing $3,350 Usher Syndrome Type CLRN1 Sequencing $440 Valosin-Containing Protein-Related Disorders 597 VPC Sequencing $1060 Van der Woude Syndrome 896 IRF6 Sequencing $620 Ventricular Septal Defects 933 FOXH1 Sequencing $390 Ventricular Tachycardia 810 RYR2 Sequencing $1,390 Vision Disorders 641 COL18A1 Sequencing $1,990 Von Hippel-Lindau Disease 1118 VHL Sequencing $440 Ciliopathy 279 INPP5E Sequencing $690 Walker-Warburg Syndrome 913 ISPD Sequencing $700 White Matter Disorders 610 EIF2B1 EIF2B5 Sequential Sequencing $540-2,390 Wilson Disease 460 ATP7B Sequencing $990 Wolff-Parkinson-White Syndrome 199 PRKAG2 Sequencing $870 How to Order Tests Wolman Disease 482 LIPA Sequencing $620 To order tests from PreventionGenetics please X-Linked Retinitis Pigmentosa (XLRP) 679 contact RPGR us: Sequencing $1, Web: RP2 Sequencing $540 X-Linked Spondyloepiphyseal Dysplasia Tarda TRAPPC2 Sequencing $440 [email protected] Phone: