Targeted Testing of Familial Mutations 100 Single exon sequencing of gene $190 200 Double exon sequencing of gene $340 300 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 $1,990 782 SLC26A2 Sequencing $570 Achromatopsia 695 Achromatopsia Sequencing Panel (CNGA3, CNGB3, GNAT2, PDE6C) $570-2,730 691 CNGA3 Sequencing $570 692 CNGB3 Sequencing $980 693 GNAT2 Sequencing $570 694 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) $820-3810 206 DSC2 Sequencing $900 205 DSG2 Sequencing $940 203 DSP Sequencing $1,820 204 PKP2 Sequencing $820 209 TMEM43 Sequencing $760 Arthrogryposis-Renal Dysfuction-Cholestasis Syndrome 591 VIPAR Sequencing $1,020 248 VPS33B Sequencing $1,090 Ataxia 917 SACS Sequencing $1990 916 ANO10 Sequencing $790 796 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) $340-3,520 108 ALS2 Sequencing $1,790 154 ANG Sequencing $340 157 FIG4 Sequencing $1,170 152 FUS Sequencing $890 156 OPTN Sequencing $780 109 SETX Sequencing $1,690 106 SOD1 Sequencing $490 153 TARDPB Sequencing $470 158 UBQLN2 Sequencing $480 107 VAPB Sequencing $490 Autosomal Recessive Polycystic Kidney Disease 101 PKHD1 Sequencing $1,190-2990 102 PKHD1 Sequencing Tier 1 only $1,190 103 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) $490-8,530 254 ARL6/BBS3 Sequencing $540 252 BBS1 Sequencing $890 253 BBS2 Sequencing $890 255 BBS4 Sequencing $890 256 BBS5 Sequencing $740 258 BBS7 Sequencing $1,020 261 BBS9 Sequencing $1,130 262 BBS10 Sequencing $490 264 BBS12 Sequencing $490 257 MKKS/BBS6 Sequencing $580
659 SDCCAG8 $1,040 263 TRIM32/BBS11 Sequencing $490 259 TTC8/BBS8 Sequencing $850 Barth Syndrome 149 TAZ Sequencing $640 Bethlem Myopathy 359 COL6A1-COL6A2-COL6A3 Sequential Sequencing $1,290-3,890 121 KRIT1/CCM1 Sequencing $840 122 CCM2 Sequencing $740 123 PDCD10/CCM3 Sequencing $540 124 CCM2 Deletion Testing $190 125 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 $490-990 111 BRAF Sequencing Tier 1 only $490 112 MAP2K1, MAP2K2, KRAS Sequencing Tier 2 $590 113 BRAF Sequencing (remaining exons) Test 2 $790 378 KRAS Sequencing $440 Cardiomyopathy 147 ABCC9 Sequencing $1,710 148 PLN Sequencing $340 Cartilage-hair Hypoplasia 784 RMRP Sequencing $290 Catecholaminergic Polymorphic Ventricular Tachycardia 941 CASQ2 Sequencing $740 940 CPVT Sequencing Panel $4,315 810 Sequential RYR2 Sequencing $1,640-3,990 811 RYR2 Sequencing Tier 1 Only $1,640 812 RYR2 Sequencing Tier 2 Only $3,070 Central Core Disease 570 RYR1 Sequencing $740 Childhood Recurrent Acute Myoglobinuria 369 LPIN1 Sequencing $1,090 319 LPIN1 Exons 18-19 Deletion Test $190 Chondrodysplasia Punctata 813 ARSE Sequencing $620 Chromosomal Instaility Syndromes 1142 ERCC3 Sequencing $980 1141 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) $490-1,470 542 Congenital Disorders of Glycosylation Panel 2 (ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2) $470-3,020 536 ALG2 Gene Sequencing $470 539 ALG3 Gene Sequencing $590 533 ALG6 Gene Sequencing $740 537 ALG8 Gene Sequencing $790 534 ALG12 Gene Sequencing $590 535 DPM1 Gene Sequencing $570 543 DPM3 Gene Sequencing $340 531 PMM2 Gene Sequencing $490 538 MPDU1 Gene Sequencing $540 532 MPI Gene Sequencing $490 Cerebral Cavernous Malformations Congenital Generalized Lipodystrophy 120 Sequential CCM Gene Testing $190-1690
463 Congenital Generalized Lipodystrophy Seq. Panel (AGPAT2, BSCL2) $640-1,310 462 AGPAT2 Sequencing $640 461 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) $540-5,770 407 CHAT Sequencing $960 401 CHRNA1 Gene Sequencing $680 402 CHRNB1 Gene Sequencing $680 403 CHRND Gene Sequencing $770 404 CHRNE Gene Sequencing $730 409 COLQ Sequencing $920 406 MUSK Sequencing $920 465 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) $190-450 141 HRAS Sequencing Tier 1 only $190 142 HRAS Sequencing Tier 2 only $260 Cranioectodermal Dysplasia 623 IFT122 Sequecncing $1,460 292 WDR35 Sequencing $1,370 Creatine Deficiency Syndrome 241 GATM Sequencing $660 242 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) $530-3,340 337 MYH3 Gene Sequencing $1990 333 TNNI2 Gene Sequencing $530 334 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 $440 162 PNKD Sequencing $190-540 163 PNKD Sequencing - Tier 1 only $190 164 PNKD Sequencing - Tier 2 only $350 165 SGCE Sequencing $590 159 TH Sequencing $840 166 TOR1A Sequencing $190-440 167 TOR1A Sequencing - Tier 1 only $190 168 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) $2,260-4,290 841 COL5A1 Sequencing $2,470
842 COL5A2 Sequencing $2,260 844 COL3A1 Sequencing $2230 845 PLOD Sequencing $1,120 843 TNXB Sequencing $530 Ellis-van Creveld Syndrome 783 EVC, EVC2 Sequencing $1,090-2,060 783 EVC Sequencing $1,090 783 EVC2 Sequencing $970 Emberger Syndrome 286 GATA2 Sequencing $530 Escobar Variant, Multiple Pterygrim Syndrome 405 CHRNG Sequencing $730 Eye Diseases 696 ABCA4 Sequencing $2,090 686 CNGA1 Sequencing $690 687 CNGB1 Sequencing $1,590 641 COL18A1 Sequencing $1,990 681 CRB1 Sequencing $1,040 665 CRX Sequencing $440 664 IMPDH1 Sequencing $890 668 NR2E3 Sequencing $540 684 PDE6A Sequencing $1,190 685 PDE6B Sequencing $1,190 669 PRPF3 Sequencing $190-890 667 PRPF8 Sequencing $190-1,990 666 PRPF31 Sequencing $740 663 PRPH2 Sequencing $420 661 RHO Sequencing $540 662 RP1 Sequencing $1,140 682 RPE Sequencing $840 683 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) $440-3,620 216 PRF1 Sequencing $540 213 RAB27A Sequencing $490 217 STX11 Sequencing $440 214 STXBP2 Sequencing $1,060 218 UNC13D Sequencing Tier 1 $840 219 UNC13D Sequencing Tier 2 $890 Familial Limb Girdle Myasthenic Syndrome 408 AGRN Sequencing $1,780 414 DOK7-AGRN-GFPT1 Panel $540-2130 594 GFPT1 Sequencing $1090 465 DOK7 Sequencing $620 Fanconi Anemia 720 Fanconi Anemia Panel (FANCA, FANCC, FANCG) $820-2,960 726 BRIP1/FANCJ Sequencing $1,090 721 FANCA Sequencing $1,840 883 FANCB Sequencing $790 722 FANCC Sequencing $820 884 FANCD2 Sepuencing $1,780 724 FANCE Sequencing $740 725 FANCF Sequencing $440 723 FANCG Sequencing $820 885 FANCI Sequencing $1,640 729 FANCL Sequencing $820 727 FANCM Sequencing $1,460 728 PALB2/FANCN Sequencing $980 881 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 $540 181 ACADM Sequencing - Tier 1 only $190 182 ACADM Sequencing - Tier 2 only $440 183 ACADS Sequencing $540 184 ACADVL Sequencing $740 Fructose-1,6-Bisphosphatase Deficiency 238 FBP1 Sequencing $590 Galactosemia 201 GALT Sequencing $440 GDF5-related Disorders 852 GDF5 Sequencing $440
Giant Axonal Neuropathy 918 GAN Sequencing $820 Glutaric Acidemia I 210 GCDH Sequencing $540 284 CCBE1 Sequencing $690 Hereditary Breast and Ovarian Cancers 714 CHEK2 Sequencing $890 1004 BARD1 Sequencing $900 Glycogen Storage Disease 220 GYS2 Sequencing (Type 0) $940 221 G6PC Sequencing (Type Ia) $440 222 SLC37A4 Sequencing (Type Ib) $540 223 GAA Sequencing (Type II) $990 224 AGL Sequencing (Type III) $1,790 225 GBE1 Sequencing (Type IV) $990 418 LAMP2 Sequencing (Type IIb) $620 226 PYGM Sequencing (Type V) $340-990 227 PYGM Sequencing (Type V) Tier 1 only $340 228 PYGM Sequencing (Type V) Tier 2 only $790 229 PYGL Sequencing (Type VI) $1,140 230 PFKM Sequencing (Type VII) $1,090 231 PHKA1 Sequencing (Type IX) $1,690 232 PHKA2 Sequencing (Type IX) $490 1,690 233 PHKB Sequencing (Type IX) $1,690 235 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) $690-1,970 861 ENG Sequencing $940 862 ACVRL1/ALK1 Sequencing $690 Hereditary Lymphedema 285 GJC2 Sequencing $480 Hereditary Multiple Osteochondromas (HMO) 806 EXT1 and EXT2 Sequencing $820-1,350 807 EXT1 Sequencing $820 808 EXT2 Sequencing $820 Hereditary Paraganglioma- Pheochromocytoma Syndrome 1134 SDHAF2 $440 1136 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 $840-1,690 321 MCCC2 Sequencing $840 322 MCCC1 Sequencing $990 3-Methylglutaconic Aciduria Type I 323 AUH Sequencing $690 Heat Shock 22/27 kda Protein-Related Disorders 387 HSPB1 Sequencing $390 389 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) $890-5,750 761 HPS1 Sequencing $890 762 AP3B1 Sequencing (Type 2) $1,320 763 HPS3 Sequencing (Type 3) $980 764 HPS4 Sequencing (Type 4) $820 765 HPS5 Sequencing (Type 5) $1,060 766 HPS6 Sequencing (Type 6) $620 767 DTNBP1 Sequencing (Type 7) $690 768 BLOC1S3 Sequencing (Type 8) $390 Heterotaxy 937 GDF1 Sequencing $480 285 LEFTY2 Sequencing $380 932 ZIC3 Sequencing $540 935 ACVR2B Sequencing $760 931 NODAL Sequencing $540
Hirschsprung Disease 791 RET Sequencing $1,130 Holoprosencephaly 580 Holoprosencephaly Sequential (SHH, ZIC2, SIX3,TGIF1, GLI2, PTCH1) $390-3,870 587 GAS1 Sequencing $390 586 GLI2 Sequencing $1,090 585 PTCH1 Sequencing $1,290 581 SHH Sequencing $590 583 SIX3 Sequencing $540 584 TGIF1 Sequencing $390 582 ZIC2 Sequencing $650 588 DISP1 Sequencing $960 Holt-Oram Syndrome 785 TBX5 Sequencing $640 Hypertrophic Cardiomyopathy 190 Sequential Testing of Eight Sarcomeric Genes $5,580 191 MYBPC3-MYH7 Sequencing $2,630 193 MYL2-MYL3-ACTC1 Sequencing $1,240 192 TNNT2-TNNI3-TPM1 Sequencing $1,710 174 ACTC1 Sequencing $530 198 ACTN2 Sequencing $1,090 196 CSRP3 Sequencing $470 172 MYH7 Sequencing $1640 175 MYL2 Sequencing $480 176 MYL3 Sequencing $450 194 TNNC1 Sequencing $490 178 TNNI3 Sequencing $570 179 TNNT2 Sequencing $820 177 TPM1 Sequencing $620 144 VCL Sequencing $1,170 Hypochondroplasia 428 FGFR3 Sequencing Hypochondroplasia $490 Hypophosphatasia 851 ALPL Sequencing $780 Inclusion Body Myopathy 367 GNE Sequencing $780 361 MYH2 Sequencing $1,690 946 ZFPM2/FOG2 $840 Isovaleric Acidemia 250 IVD Sequencing $590 Joubert Syndrome 294 Joubert Syndrome Panel (AHI1, TMEM67, CEP290, NPHP1, CC2D2A, INPP5E, ARL13B, TMEM216) $290-9,200 266 AHI1 Sequencing $1,320 277 ARL13B Sequencing $640 278 CC2D2A Sequencing $1,590 267 CEP290 Sequencing $2,190 279 INPP5E Sequencing $690 274 TMEM67/MKS3 Sequencing $1,290 275 NPHP1 Deletion Testing $290 651 NPHP1 Sequencing $1,090 276 RPGRIP1L Sequencing $1,190 576 TCTN2 Sequencing $990 291 TMEM216 Sequencing $460 Junctional Epidermolysis Bullosa 975 JEB Sequencing Panel $5,705 972 LAMA3 Sequencing $1,850 973 LAMB3 Sequencing $1,350 971 LAMC2 Sequencing $1,240 974 COL17A1 Sequencing $2,270 Juvenile Polyposis Syndrome (JPS) 708 BMPR1A Sequencing $660 709 SMAD4 Sequencing $690 Kniest Dysplasia 788 COL2A1 Sequencing $1,990 Krabbe Disease 631 GALC Sequencing $830 632 GALC Deletion Test $190 L1 Syndrome 304 L1CAM Sequencing $1,280 Leber Congenital Amaurosis 681 CRB1 Sequencing $1,040 665 CRX Sequencing $440 821 RDH12 Sequencing $570 Isolated Nonsyndromic Congenital Heart Defects 943 GATA4 Sequencing $570 944 NKX2-5 $380 Lethal Arthrogryposis with Anterior Horn Cell Disease 590 GLE1 Sequencing $1,020
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 $1,090 469 ANO5 Sequencing $1090 341 CAPN3 Sequencing $1090 467 CAV3 Sequencing $390 899 DNAJB6 Sequencing $700 465 DOK7 Sequencing $620 342 DYSF Sequencing $2490 344 FKRP Sequencing $390 347 LMNA Sequencing $590 366 MYOT/TTID Sequencing $590 593 PLEC1 Sequencing (Type 2Q) $2460 352 SGCA Sequencing $490 353 SGCB Sequencing $440 146 SGCD Sequencing $570 165 SGCE Sequencing $590 338 SGCG Sequencing $570 468 TCAP Sequencing $390 385 TTN Sequencing $1290 Lysosomal Storage Disorders 477 GLB1 Sequencing $840 476 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 3,990 571 RYR1 Sequencing Tier 1 only $740 572 RYR1 Sequencing Tier 2 only $3,790 Maple Syrup Urine Disease 525 Maple Syrup Urine Disease Panel (BCKDHA, BCKDHB, DBT) $640-1,860 526 BCKDHA Sequencing $640 527 BCKDHB Sequencing $730 528 DBT Sequencing $820 529 DLD Sequencing $860 Lissencephaly 502 ARX Sequencing $590 503 DCX Sequencing $590 507 PAFAH1B1/LISI Sequencing $670 506 RELN Sequencing $2,590 504 TUBA1A Sequencing $440 505 YWHAE Sequencing $520 Loeys-Dietz Syndrome 396 TGFBR1 Sequencing $620 397 TGFBR2 Sequencing $710 Lujan Syndrome 398 MED12 Sequencing $1,960 Lynch Syndrome 701 MLH1 Sequencing $1,290 705 MLH3 Sequencing $1,210 702 MSH2 Sequencing $1,090 703 MSH6 Sequencing $1,050 704 PMS1 Sequencing $940 712 PMS2 Sequencing $980 Lymphedema 280 FOXC2 Sequencing $390 281 FLT4 Sequencing Tier 1 only $540 282 FLT4 Sequencing Tier 2 only $950 283 SOX18 Sequencing $490 Marfan Syndrome 394 FBN1 Sequencing $2,190 Meckel Gruber Syndrome 295 Meckel-Gruber Syndrome Sequencing Panel (MKS1, TMEM67, CC2D2A, RPGRIP1L, CEP290) $840-6,035 278 CC2D2A Sequencing $1,590 267 CEP290 Sequencing $2,190 301 MKS1 Sequencing $840 276 RPGRIP1L Sequencing $1,190 274 TMEM67/MKS3 Sequencing $1,290 Megalencephalic Leukoencephalopathy 602 HEPACAM Sequencing $590 601 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 $860 561 CUL4B Sequencing $1,090 297 OPHN1 Sequencing $1,320
CLINICAL 562 SLC9A6 Sequencing TEST PRICES BY $790 DISEASE 134 VPS13B Sequencing $2,990 Metachromatic Leukodystrophy 621 Metachromatic Leukodystrophy Sequencing Panel (ARSA, PSAP) $490-1,140 620 ARSA Sequencing $490 511 PSAP Sequencing $790 Methylmalonic Acidemia 310 Sequential Gene Sequencing $790-1,640 326 LMBRD1 Sequencing $920 311 MUT Sequencing $790 312 MMAA Sequencing $490 313 MMAB Sequencing $540 212 MMADHC $570 Methylmalonic Aciduria 325 MMA Panel Sequencing $480-1,690 Microcephaly 293 WDR62 Sequencing $1,440 Mucolipidosis 316 GNPTAB Sequencing $1,190 317 GNPTG Sequencing $470 Mucopolysaccharidosis 452 Type I IDUA Sequencing $840 453 Type II IDS Sequencing $670 459 Type IIIA SGSH Sequencing $710 484 Type IIIB NAGLU Sequencing $740 458 Type IIIC HGSNAT Sequencing $960 456 Type IIID GNS Sequencing $880 455 Type IVA GALNS Sequencing $840 454 Type VI ARSB Sequencing $620 457 Type VII GUSB Sequencing $660 485 Type IX HYAL1 Sequencing $540 Multiminicore, Rigid Spine Muscular Dystrophy 330 SEPN1 Sequencing $690 357 TPM3 Sequencing $570 Multiple Carboxylase Deficiency 520 BTD Sequencing $540 521 HLCS Sequencing $740 Mulitple Endocrine Neoplasia 716 CDKN1B Sequencing $390 715 MEN1 Sequencing $690 792 Type 2A - RET Sequencing t Tier 1 $540 793 Type 2A - RET Sequencing Tier 2 $1,130 794 Type 2B - RET Sequencing $340 Multiple Epiphyseal Dysplasia 815 Multiple Epiphyseal Dysplasia Panel (COMP,MATN3,SLC26A2,COL9A1, COL9A2,COL9A3) $570-5,670 782 SLC26A2 Sequencing $570 809 COMP Sequencing $990 816 MATN3 Sequencing $660 817 COL9A2 Sequencing $1,240 818 COL9A3 Sequencing $1,460 Multiple Pterygium Syndrome 415 CHRNA1, CHRND, CHRNG Sequencing $680-1890 405 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 ) $390-7,920 340 Dystroglycanopathy Panel (FKRP, FKTN, POMT1, POMT2, POMGnT1, LARGE DAG1) $390 4,275 596 BAG3 Sequencing $660 341 CAPN3 Sequencing $1,090 467 CAV3 Sequencing $390 912 CHKB Sequencing $690 384 DAG1 Sequencing $640 465 DOK7 Sequencing $540 342 DYSF Sequencing $2,490 592 EMD Sequencing $480 344 FKRP Sequencing $390 343 FKTN Sequencing $590 354 FKTN Japanese Founder Mutation $200 244 ITGA7 Sequencing $1,240 345 LAMA2 Sequencing $2,990 245 LAMA2: Mexican Exon 55 Mutation $190 346 LARGE Sequencing $890 347 LMNA Sequencing $590 366 MYOT Sequencing $590 348 POMT1 Sequencing $890 349 POMT2 Sequencing $990 351 POMGNT1 Sequencing $640 330 SEPN1 Sequencing $690 352 SGCA Sequencing $490 353 SGCB Sequencing $440 146 SGCD Sequencing $570 338 SGCG Sequencing $570 246 SYNE1 Sequencing $6,490 247 SYNE1 Seq. French Canadian Mutation Panel (exons 2-146) $550 468 TCAP Sequencing $390 385 TTN Sequencing exons 307-312 $1,290 MUTYH Associated Polyposis (MAP) Syndrome 706 MUTYH Sequencing $780
CLINICAL Myopathy TEST PRICES BY DISEASE 329 Congenital Fiber Type Disproportion Panel (TPM3, RYR1, SEPN1, ACTA1, TPM2) $530-5,410 358 ACTA1 Sequencing $530 330 SEPN1 Sequencing $690 331 TPM2 Sequencing $590 570 RYR1 Sequencing $740 357 TPM3 Sequencing $570 Minicore Myopathy Panel 330 SEPN1 Sequencing $690 570 RYR1 Sequencing $740 Central Core Disease 570 RYR1 Sequencing $740 350 Nemaline Myopathy Panel (ACTA1, NEB, NEBx55 Del, TPM2, TPM3, TNNT1, CFL2) $530-8,060 598 KBTBD13 Sequencing $540 358 ACTA1 Sequencing $530 249 CFL2 Sequencing $420 355 NEB Sequencing $3,245-6,490 356 NEB Exon 55 Deletion Test $200 332 TNNT1 Sequencing $690 331 TPM2 Sequencing $590 595 Myofibrillar Myopathy Panel (BAG3, CRYAB, DES, FLNC, LDB3, MYOT) $370-4,860 596 BAG3 Sequencing $660 362 CRYAB Sequencing $370 363 DES Sequencing $670 364 FLNC Sequencing $2,490 365 LDB3 (ZASP) Sequencing $940 366 MYOT Sequencing $590 Distal Neuronopathy 387 HSPB1 Sequencing $390 389 HSPB8 Sequencing $440 383 GARS Sequencing $940 461 BSCL2 Sequencing $740 336 MATR3 Sequencing $820 367 GNE Sequencing $780 597 VCP Sequencing $1060 361 MYH2 Sequencing $1,690 357 TPM3 Sequencing $570 599 PNPLA2 Sequencing $760 Nephronopthisis 660 Nephronophthisis Sequencing Panel (NPHP1, INVS/NPHP2, NPHP3, NPHP4, IQCB1/NPHP5, CEP290/NPHP6, GLIS2/NPHP7, RPGRIP1L/NPHP8, NEK8/NPHP9 SDCCAG8) 540-9,550 656 GLIS2/NPHP7 Deletion Test $540 652 INVS/NPHP2 Deletion Test $940 655 IQCB1/NPHP5 Deletion Test $740 657 NEK8/NPHP9 Sequencing $840 275 NPHP1 Deletion Test $290 651 NPHP1 Sequencing $1,090 653 NPHP3 Sequencing $1,320 654 NPHP4 Sequencing $1,350 659 SDCCAG8 Sequencing $1,040 658 XPNPEP3 Sequencing $690 Nevoid Basal Cell Carcinoma Syndrome 585 PTCH1 Sequencing $1290 Neurofibromatosis 117 NF1 Sequencing $2,490 118 NF2 Sequencing $840 116 SPRED1 Sequencing $540 Neurofibromatosis-Noonan Syndrome 115 NF1 Sequencing Tier 1 $540 117 NF1 Sequencing Tier 2 $2,490 Neutropenia 445 Severe Congenital Neutropenia Panel (ELANE,HAX1,G6PC3,GFI1,WAS) $190-2,270 443 G6PC3 Sequencing $530 444 ELANE Sequencing $520 446 HAX1 Sequencing $520 447 GFI1 Sequencing $560 Niemann-Pick Disease 473 NPC1 Sequencing $1,240 474 NPC2 Sequencing $490 Nijmegen Breakage Syndrome 797 NBN Sequencing $1090 Noonan Syndrome / LEOPARD Syndrome 370 Sequential (PTPN11, SOS1, RAF1, KRAS) $390-1,990 371 Sequential Tier 1 only $390 372 Sequential Tier 2 only $1,990 373 Noonan PTPN11 Sequencing $ 390-890 371 Noonan PTPN11 Sequencing Tier 1 $390 374 Noonan PTPN11 Sequencing Tier 2 $690 1113 RAF1 Sequencing $900 376 SOS1 Sequencing $590-1,190 377 LEOPARD PTPN11 Sequencing $370-890 378 KRAS Sequencing $440 115 NF1 Sequencing Panel $540-2490 379 NRAS Sequencing $430 381 SHOC2 Sequencing $660 Oligodontia-Colorectal Cancer 719 AXIN2 Sequencing $790 Oral-Facial-Digital Syndrome Type 1 296 OFD1 Sequencing $1,320 Osteoarthritis 788 COL2A1 Sequencing $1,990 Ovarian Disorders
732 FSHR Sequencing Ovarian Dysgenesis 1 $820 732 FSHR Sequencing Ovarian Hyperstimulation Syndrome $820 Ovarian Dysgenesis 733 BMP15 Sequencing Ovarian Dysgenesis 2 $440 Paget Disease 850 SQSTM1-TNFRSF11A Sequencing $690-1,290 853 SQSTM1 Sequencing $740 854 TNFRSF11A Sequencing $690 855 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 1 413 DOK7-RAPSN Sequencing Panel (RAPSN, DOK7) $540-$1,060 Peutz-Jeghers Syndrome 711 STK11 Sequencing $640 305 TSEN2 Sequencing $740 306 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) $490-14,560 745 Kartagener s Syndrome or Heterotaxy with Chronic Respiratory Infections Gene Sequencing Panel (DNAH5, DNAI1, CCDC39, CCDC40, DNAI2, DNAH11, KTU/C14orf104, LRRC50, TXNDC3) $490-11,050 754 CCDC39 Sequencing $980 755 CCDC40 Sequencing $1,060 740 DNAH5 Sequencing $3,350 741 DNAH5 Sequencing Tier 1 Only $490 742 DNAH5 Sequencing Tier 2 Only $3,090 743 DNAH11 Sequencing $3,320 744 DNAI1 Sequencing $1,060 746 DNAI2 Sequencing $740 749 KTU / C14orf104 Sequencing $690 756 DNAL1 Sequencing $620 752 LRRC50 Sequencing $780 297 OFD1 Sequencing $1,320 753 RPGR Sequencing $1,090 747 RSPH4A Sequencing $620 748 RSPH9 Sequencing $480 751 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 $790-1,830 391 PCCA Sequencing $1,240 392 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
Retinoblastoma 795 RB1 Sequencing $1570 Robinow Syndrome, Autosomal Recessive 136 ROR2 Sequencing $740 Roberts Syndrome 836 ESCO2 Sequencing $740 699 TIMP3 Sequencing $490 Sotos Syndrome 132 NSD1 Sequencing $1,590 Sphingolipidoses 620 ARSA Sequencing $490 479 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 $540 425 FGFR3 Sequencing Achondroplasia $190 426 FGFR3 Sequencing Thanatophoric Dysplasia $440 429 FGFR3 Sequencing Achondroplasia/ Hypochondroplasia $940 628 GHSR Sequencing $550 629 LHX4 Sequencing $550 626 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) $540-1,290 421 DLL3 Sequencing $590 424 GDF6 Sequencing $490 422 LFNG Sequencing $490 423 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 1 339 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) $1,990-5,550 788 COL2A1 Sequencing $1,990 789 COL2A1 Sequencing Tier 1 Only $440 790 COL2A1 Sequencing Tier 2 Only $1,840 Stickler Syndrome 788 COL2A1 Sequencing for Type I $1,990 805 COL9A1 Sequencing Tier 2 Only $1,760 831 COL11A1 Sequencing $2,460 829 COL11A2 Sequencing $2.090 Stuttering 315 Stuttering Panel (GNPTAB, GNPTG, NAGPA) $1,790 316 GNPTAB Sequencing $1,240 317 GNPTG Sequencing $490 318 NAGPA Sequencing $690 Tay-Sachs Disease 478 GM2A Sequencing $440 475 HEXA Sequencing $770 Thrombocytopenia 430 ADAMTS13 Sequencing $1,290 431 GATA1 Sequencing $390 432 Bernard-Soulier Sequential (GP1BA, GP1BB, GP9) $490-890 433 GP1BA Sequencing $490 434 GP1BB Sequencing $390 435 GP9 Sequencing $340 436 MASTL Sequencing $740 441 MYH9 Sequencing Tier 1 $690 442 MYH9 Sequencing Tier2 $1740 437 MPL Sequencing $640
Test No. Test Name Price 439 RUNX1 Sequencing $490 440 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 $1280 1002 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 $490 553 ASS1 Sequencing $740 554 CPS1 Sequencing $1,890 555 NAGS Sequencing $430 551 OTC Sequencing $540 Usher Syndrome Type 1 645 Usher Syndrome Type 1 Sequencing Panel (MYO7A, CDH23, PCDH15, USH1C) $1,320-7,160 642 CDH23 Sequencing $2,790 643 MYO7A Sequencing $2,060 644 PCDH15 Sequencing $1,710 646 USH1C Sequencing $1,320 649 USH1G Sequencing $540 Usher Syndrome Type 2 697 DFNB31 Sequencing $890 698 GPR98 Sequencing $3940 648 USH2A Sequencing $3,350 Usher Syndrome Type 3 647 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 $1,090 680 Web: RP2 Sequencing $540 www.preventiongenetics.com X-Linked Spondyloepiphyseal Dysplasia Tarda 819 Email: TRAPPC2 Sequencing $440 clinicaldnatesting@preventiongenetics.com Phone: 715-387-0484