Ablepharon-macrostomia syndrome TWIST2
$445
2138
81479 x 1
,
$900
2139
81479 x 1
,
$1,100
2140
81479 x 1
Abnormal mineralization disorders NGS panel CLCN5, FAH, OCRL, SLC34A1, SLC34A3, SLC9A3R1, VDR, FGF23, DMP1, ENPP1, CYP27B1, CASR, ANKH, ALPL, PHEX
$1,100
5082
81479 x 1
81404 x 1
81405 x 1
81406 x 1
,
$990
5083
81479 x 1
,
$1,300
5084
81479 x 1
81404 x 1
81405 x 1
81406 x 1
Achondrogenesis NGS panel COL2A1, SLC26A2, TRIP11
$1,100
5139
81479 x 1
,
$990
5140
81479 x 1
,
$1,300
5141
81479 x 1
Achondrogenesis, type IA TRIP11
$900
1001
81479 x 1
,
$900
1002
81479 x 1
,
$1,100
1444
81479 x 1
Achondrogenesis, type IB - SLC26A2 SLC26A2
$600
1003
81479 x 1
,
$900
1004
81479 x 1
,
$1,100
1445
81479 x 1
Achondrogenesis, type II / Hypochondrogenesis COL2A1
$900
1005
81479 x 1
,
$900
1006
81479 x 1
,
$1,100
1446
81479 x 1
Achondroplasia / Hypochondroplasia FGFR3
$900
1007
81479 x 1
,
$900
1756
81479 x 1
,
$725
1008
81404 x 1
Achondroplasia / Hypochondroplasia Option 1 FGFR3
$1,100
1757
81404 x 1
81479 x 1
Acrofacial dysostosis 1, Nager type SF3B4
$650
1988
81479 x 1
,
$900
1989
81479 x 1
,
$1,100
1990
81479 x 1
Acromelic frontonasal dysostosis ZSWIM6
$900
2006
81479 x 1
,
$900
2007
81479 x 1
,
$1,100
2008
81479 x 1
Acromesomelic dysplasia, Hunter-Thompson type GDF5
$900
1842
81479 x 1
,
$900
1843
81479 x 1
,
$1,100
1844
81479 x 1
Acromesomelic dysplasia, Maroteaux type NPR2
$900
1010
81479 x 1
,
$900
1011
81479 x 1
,
$1,100
1447
81479 x 1
Adams-Oliver Syndrome 1 ARHGAP31
$900
1013
81479 x 1
,
$900
1014
81479 x 1
,
$1,100
1448
81479 x 1
Adams-Oliver syndrome 2 DOCK6
$900
1449
81479 x 1
,
$900
1450
81479 x 1
,
$1,100
1451
81479 x 1
Adams-Oliver syndrome 3 RBPJ
$900
1452
81479 x 1
,
$900
1453
81479 x 1
,
$1,100
1454
81479 x 1
Adams-Oliver syndrome 4 EOGT
$900
1455
81479 x 1
,
$900
1456
81479 x 1
,
$1,100
1457
81479 x 1
Adams-Oliver syndrome 5 NOTCH1
$900
1936
81407 x 1
,
$900
1937
81479 x 1
,
$1,100
1938
81407 x 1
81479 x 1
Adams-Oliver syndrome 6 DLL4
$900
2352
81479 x 1
,
$900
2353
81479 x 1
,
$1,100
2354
81479 x 1
Adams-Oliver syndrome NGS panel DLL4, NOTCH1, DOCK6, EOGT, ARHGAP31, RBPJ
$1,100
1933
81407 x 1
81479 x 1
,
$990
1934
81479 x 1
,
$1,300
1935
81407 x 1
81479 x 1
Alagille syndrome 1 JAG1
$900
1015
81407 x 1
,
$900
1016
81406 x 1
,
$1,100
1461
81406 x 1
81407 x 1
Alagille syndrome 2 NOTCH2
$900
1390
81479 x 1
,
$900
1391
81479 x 1
,
$1,100
1462
81479 x 1
Alagille syndrome NGS panel ATP8B1, JAG1, NOTCH2
$1,100
5157
81407 x 1
81479 x 1
,
$990
5158
81406 x 1
81479 x 1
,
$1,300
5159
81406 x 1
81407 x 1
81479 x 1
Alagille syndrome, ATP8B1 related ATP8B1
$900
2141
81479 x 1
,
$900
2142
81479 x 1
,
$1,100
2143
81479 x 1
Alopecia universalis congenita and Atrichia with papular lesions HR
$900
2451
81479 x 1
,
$900
2452
81479 x 1
,
$1,100
2453
81479 x 1
Alport syndrome NGS panel COL4A3, COL4A4, COL4A6, COL4A5
$1,100
5142
81407 x 1
81408 x 1
81479 x 1
,
$990
5143
81479 x 1
81407 x 1
,
$1,300
5144
81407 x 1
81408 x 1
81479 x 1
Alport syndrome, X-linked COL4A5
$900
1017
81408 x 1
,
$900
1018
81407 x 1
,
$1,100
1463
81408 x 1
81407 x 1
Amelogenesis imperfecta and related disorders NGS panel AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72
$1,100
5197
81479 x 1
,
$990
5198
81479 x 1
,
$1,300
5199
81479 x 1
Amelogenesis imperfecta, type IV DLX3
$495
1912
81479 x 1
,
$900
1913
81479 x 1
,
$1,100
1914
81479 x 1
Amyotrophic lateral sclerosis and related disorders NGS panel ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
$1,300
5235
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
,
$990
5236
81479 x 1
,
$1,500
5237
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
Anauxetic dysplasia RMRP
$350
1019
81479 x 1
,
$900
1893
81479 x 1
,
$1,100
1894
81479 x 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps COL4A1
$900
2144
81408 x 1
,
$900
2145
81479 x 1
,
$1,100
2146
81408 x 1
81479 x 1
Aortic aneurysm, familial thoracic 3 TGFBR2
$600
1020
81405 x 1
,
$900
1021
81479 x 1
,
$1,100
1464
81405 x 1
81479 x 1
Aortic aneurysm, familial thoracic 4 MYH11
$900
1023
81408 x 1
,
$900
1024
81479 x 1
,
$1,100
1467
81408 x 1
81479 x 1
Aortic aneurysm, familial thoracic 5 TGFBR1
$600
1025
81405 x 1
,
$900
1026
81479 x 1
,
$1,100
1468
81405 x 1
81479 x 1
Aortic aneurysm, familial thoracic 6 ACTA2
$599
1029
81405 x 1
,
$900
1030
81479 x 1
,
$1,100
1473
81405 x 1
81479 x 1
Aortic aneurysm, familial thoracic 7 MYLK
$900
1031
81479 x 1
,
$900
5273
81479 x 1
,
$1,100
5274
81479 x 1
Aortic aneurysm, familial thoracic 8 PRKG1
$900
1739
81479 x 1
,
$900
1740
81479 x 1
,
$1,100
1741
81479 x 1
Aortic aneurysm, familial thoracic 9 MFAP5
$685
2009
81479 x 1
,
$900
2010
81479 x 1
,
$1,100
2011
81479 x 1
Aortic valve disease 1 NOTCH1
$900
1939
81407 x 1
,
$900
1940
81479 x 1
,
$1,100
1941
81407 x 1
81479 x 1
Arterial calcification, generalized, of infancy NGS panel ABCC6, ENPP1
$1,100
1438
81479 x 1
,
$990
1478
81479 x 1
,
$1,300
1479
81479 x 1
Arterial calcification, generalized, of infancy, 1 ENPP1
$900
1036
81479 x 1
,
$900
1037
81479 x 1
,
$1,100
1476
81479 x 1
Arterial calcification, generalized, of infancy, 2 ABCC6
$900
1436
81479 x 1
,
$900
1437
81479 x 1
,
$1,100
1477
81479 x 1
Arterial tortuosity syndrome SLC2A10
$615
1038
81479 x 1
,
$900
1039
81479 x 1
,
$1,100
1480
81479 x 1
Atelosteogenesis, type I / III FLNB
$900
1048
81479 x 1
,
$900
2390
81479 x 1
,
$1,100
2391
81479 x 1
Atelosteogenesis, type I / III Option 1 FLNB
$495
1049
81479 x 1
Atelosteogenesis, type II SLC26A2
$600
1051
81479 x 1
,
$900
1052
81479 x 1
,
$1,100
1485
81479 x 1
Atrial fibrillation NGS panel ABCC9, GATA6, GJA5, GLA, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5
$1,300
5309
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
,
$990
5310
81479 x 1
,
$1,500
5311
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
Atrioventricular block NGS Panel DES, EMD, GAA, GLA, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4
$1,100
5312
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
,
$990
5313
81404 x 1
81479 x 1
,
$1,300
5314
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, THBD
$1,100
5145
81404 x 1
81479 x 1
,
$990
5146
81479 x 1
,
$1,300
5147
81404 x 1
81479 x 1
81401 x 1
Auriculocondylar syndrome NGS panel EDN1, GNAI3, PLCB4
$1,100
5352
81479 x 1
,
$990
5353
81479 x 1
,
$1,300
5354
81479 x 1
Avascular necrosis of femoral head, primary COL2A1
$900
1053
81479 x 1
,
$900
1835
81479 x 1
,
$1,100
1836
81479 x 1
Axial spondylometaphyseal dysplasia NGS panel C21orf2, NEK1
$1,100
5254
81479 x 1
,
$990
5255
81479 x 1
,
$1,300
5256
81479 x 1
Barber-Say syndrome TWIST2
$445
2147
81479 x 1
,
$900
2148
81479 x 1
,
$1,100
2149
81479 x 1
Bartter syndrome and related disorders NGS panel BSND, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3, CASR
$1,100
5391
81404 (KCNJ1) x 1
81405 x 1
81406 x 1
81407 (SCL12A1, SLC12A3) x 1
81479 x 1
,
$990
5392
81479 x 1
,
$1,300
5393
81404 (KCNJ1) x 1
81405 x 1
81406 x 1
81407 (SCL12A1, SLC12A3) x 1
81479 x 1
Basal cell nevus syndrome - PTCH1 PTCH1
$900
2211
81479 x 1
,
$900
2212
81479 x 1
,
$1,100
2213
81479 x 1
Basal cell nevus syndrome - PTCH2 PTCH2
$900
2214
81479 x 1
,
$900
2215
81479 x 1
,
$1,100
2216
81479 x 1
Basal cell nevus syndrome - SUFU SUFU
$900
2217
81479 x 1
,
$900
2218
81479 x 1
,
$1,100
2219
81479 x 1
Basal cell nevus syndrome NGS panel PTCH1, PTCH2, SUFU
$1,100
2220
81479 x 1
,
$990
2221
81479 x 1
,
$1,300
2222
81479 x 1
Benign chronic pemphigus ATP2C1
$900
5361
81479 x 1
,
$900
5362
81479 x 1
,
$1,100
5363
81479 x 1
Bent bone dysplasia syndrome FGFR2
$900
1909
81479 x 1
,
$900
1910
81479 x 1
,
$1,100
1911
81479 x 1
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL12A1, COL6A3, COL6A2, COL6A1
$1,100
1059
81407 x 1
81479 x 1
,
$990
1486
81479 x 1
81406 x 1
,
$1,300
1487
81407 x 1
81479 x 1
81406 x 1
Birt-Hogg-Dube syndrome FLCN
$900
2223
81479 x 1
,
$900
2224
81479 x 1
,
$1,100
2225
81479 x 1
Blepharocheilodontic syndrome NGS panel CDH1, CTNND1
$1,100
5346
81406 x 1
81479 x 1
,
$990
5347
81479 x 1
,
$1,300
5348
81406 x 1
81479 x 1
Boomerang dysplasia FLNB
$900
1060
81479 x 1
,
$900
2392
81479 x 1
,
$1,100
2393
81479 x 1
Boomerang dysplasia Option 1 FLNB
$495
1061
81479 x 1
Brachyolmia type 3 TRPV4
$900
1063
81479 x 1
,
$900
1760
81479 x 1
,
$1,100
1761
81479 x 1
Brain small vessel disease with or without ocular anomalies COL4A1
$900
2150
81408 x 1
,
$900
2151
81479 x 1
,
$1,100
2152
81408 x 1
81479 x 1
Branchiooculofacial syndrome TFAP2A
$900
2078
81479 x 1
,
$900
2079
81479 x 1
,
$1,100
2080
81479 x 1
Brittle cornea syndrome 1 ZNF469
$900
1064
81479 x 1
,
$900
1065
81479 x 1
,
$1,100
1488
81479 x 1
Brittle cornea syndrome 2 PRDM5
$900
1066
81479 x 1
,
$900
1067
81479 x 1
,
$1,100
1489
81479 x 1
Brittle cornea syndrome NGS panel PRDM5, ZNF469
$1,100
5247
81479 x 1
,
$990
5248
81479 x 1
,
$1,300
5249
81479 x 1
Bruck syndrome 2 PLOD2
$900
1068
81479 x 1
,
$900
1692
81479 x 1
,
$1,100
1693
81479 x 1
Brugada syndrome and related disorders NGS panel ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GAA, GLA, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4
$1,300
5315
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
,
$990
5316
81479 x 1
,
$1,500
5317
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
Buschke-Ollendorff syndrome LEMD3
$900
1069
81479 x 1
,
$900
1070
81479 x 1
,
$1,100
1490
81479 x 1
CADASIL NGS panel HTRA1, NOTCH3
$1,100
5415
81405 x 1
81479 x 1
,
$990
5416
81479 x 1
,
$1,300
5417
81405 x 1
81479 x 1
Caffey disease COL1A1
$900
1071
81408 x 1
,
$900
2449
81479 x 1
,
$1,100
2450
81408 x 1
81479 x 1
Campomelic dysplasia SOX9
$900
1072
81479 x 1
,
$900
1073
81479 x 1
,
$1,100
1491
81479 x 1
Camptodactyly, tall stature, and hearing loss syndrome FGFR3
$900
2316
81479 x 1
,
$900
2317
81479 x 1
,
$1,100
2318
81479 x 1
Camurati-Engelmann disease TGFB1
$900
1074
81479 x 1
,
$900
2437
81479 x 1
,
$1,100
2438
81479 x 1
Cantu syndrome ABCC9
$900
1784
81479 x 1
,
$900
1785
81479 x 1
,
$1,100
1786
81479 x 1
Cantu syndrome NGS panel ABCC9, KCNJ8
$1,100
5160
81479 x 1
,
$990
5161
81479 x 1
,
$1,300
5162
81479 x 1
Cantu syndrome, KCNJ8 related KCNJ8
$490
2226
81479 x 1
,
$900
2227
81479 x 1
,
$1,100
2228
81479 x 1
Capillary malformation arteriovenous malformation RASA1
$900
1075
81479 x 1
,
$900
1076
81479 x 1
,
$1,100
1492
81479 x 1
Cardiac channelopathy NGS panel ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4
$1,400
5318
81413 x 1
,
$990
5319
81414 x 1
,
$1,600
5320
81413 x 1
81414 x 1
Cardiac valvular dysplasia, X-linked FLNA
$900
1077
81479 x 1
,
$900
5275
81479 x 1
,
$1,100
5276
81479 x 1
Cartilage-hair hypoplasia RMRP
$350
1078
81479 x 1
,
$900
1895
81479 x 1
,
$1,100
1896
81479 x 1
Catecholaminergic polymorphic ventricular tachycardia NGS panel ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN
$1,100
5321
81403 x 1
81405 x 1
81408 x 1
81479 x 1
,
$990
5322
81479 x 1
,
$1,300
5323
81403 x 1
81405 x 1
81408 x 1
81479 x 1
Catel-Manzke syndrome TGDS
$900
2012
81479 x 1
,
$900
2013
81479 x 1
,
$1,100
2014
81479 x 1
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 NOTCH3
$900
1991
81479 x 1
,
$900
2136
81479 x 1
,
$1,100
2137
81479 x 1
Cerebral cavernous malformations 1 KRIT1
$900
1493
81479 x 1
,
$900
1494
81479 x 1
,
$1,100
1495
81479 x 1
Cerebral cavernous malformations 2 CCM2
$900
1496
81479 x 1
,
$900
1497
81479 x 1
,
$1,100
1498
81479 x 1
Cerebral cavernous malformations 3 PDCD10
$900
1499
81479 x 1
,
$900
1500
81479 x 1
,
$1,100
1501
81479 x 1
Cerebral cavernous malformations NGS panel CCM2, KRIT1, PDCD10
$1,100
1502
81479 x 1
,
$990
1503
81479 x 1
,
$1,300
1504
81479 x 1
Cerebral small vessel disease NGS panel COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1
$1,100
5418
81405 x 1
81408 x 1
81479 x 1
,
$990
5419
81479 x 1
,
$1,300
5420
81405 x 1
81408 x 1
81479 x 1
Cerebrooculofacioskeletal syndrome NGS panel ERCC1, ERCC2, ERCC5, ERCC6
$1,100
5364
81479 x 1
,
$990
5365
81479 x 1
,
$1,300
5366
81479 x 1
Charcot-Marie-Tooth disease NGS panel AARS, AIFM1, ATP1A1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, YARS, TRPV4
$1,400
5130
81404 x 1
81405 x 1
81406 x 1
81479 x 1
81403 x 1
81325 x 1
,
$990
5131
81479 x 1
81324 x 1
,
$1,600
5132
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81479 x 1
81324 x 1
81325 x 1
CHARGE syndrome CHD7
$900
2229
81407 x 1
,
$900
2230
81479 x 1
,
$1,100
2231
81407 x 1
81479 x 1
Cholestasis NGS Panel ABCB11, ABCB4, ATP8B1, TJP2
$1,100
2262
81479 x 1
,
$990
2263
81479 x 1
,
$1,300
2264
81479 x 1
Cholestasis, benign recurrent intrahepatic, 1 ATP8B1
$900
2232
81479 x 1
,
$900
2233
81479 x 1
,
$1,100
2234
81479 x 1
Cholestasis, benign recurrent intrahepatic, 2 ABCB11
$900
2235
81479 x 1
,
$900
2236
81479 x 1
,
$1,100
2237
81479 x 1
Cholestasis, intrahepatic, of pregnancy, 1 ATP8B1
$900
2241
81479 x 1
,
$900
2242
81479 x 1
,
$1,100
2243
81479 x 1
Cholestasis, intrahepatic, of pregnancy, 3 ABCB4
$900
2244
81479 x 1
,
$900
2245
81479 x 1
,
$1,100
2246
81479 x 1
Cholestasis, progressive familial intrahepatic, 1 ATP8B1
$900
2250
81479 x 1
,
$900
2251
81479 x 1
,
$1,100
2252
81479 x 1
Cholestasis, progressive familial intrahepatic, 2 ABCB11
$900
2253
81479 x 1
,
$900
2254
81479 x 1
,
$1,100
2255
81479 x 1
Cholestasis, progressive familial intrahepatic, 3 ABCB4
$900
2256
81479 x 1
,
$900
2257
81479 x 1
,
$1,100
2258
81479 x 1
Cholestasis, progressive familial intrahepatic, 4 TJP2
$900
2259
81479 x 1
,
$900
2260
81479 x 1
,
$1,100
2261
81479 x 1
Chondrocalcinosis 2 ANKH
$900
1079
81479 x 1
,
$900
1505
81479 x 1
,
$1,100
1506
81479 x 1
Chondrodysplasia punctata 1, X-linked recessive ARSE
$900
2018
81479 x 1
,
$900
2019
81479 x 1
,
$1,100
2020
81479 x 1
Chondrodysplasia punctata 2, X-linked dominant EBP
$900
2021
81479 x 1
,
$900
2022
81479 x 1
,
$1,100
2023
81479 x 1
Chondrodysplasia punctata and related disorders NGS panel AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
$1,100
2024
81479 x 1
,
$990
2025
81479 x 1
,
$1,300
2026
81479 x 1
Chondrodysplasia with joint dislocations, GPAPP type IMPAD1
$630
1848
81479 x 1
,
$900
1849
81479 x 1
,
$1,100
1850
81479 x 1
Chondrodysplasia, Blomstrand type PTH1R
$900
2015
81479 x 1
,
$900
2016
81479 x 1
,
$1,100
2017
81479 x 1
Chondrodysplasia, Grebe type GDF5
$900
1845
81479 x 1
,
$900
1846
81479 x 1
,
$1,100
1847
81479 x 1
Cleft lip, cleft palate and related disorders NGS panel BMP4, FOXE1, GRHL3, IRF6, NECTIN1, SATB2, SUMO1, TBX22, TGDS, TP63, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, MSX1
$1,100
5291
81479 x 1
,
$990
5292
81479 x 1
,
$1,300
5293
81479 x 1
Cleidocranial dysplasia RUNX2
$900
1080
81479 x 1
,
$900
1392
81479 x 1
,
$1,100
1507
81479 x 1
Cockayne syndrome NGS panel ERCC6, ERCC8
$1,100
5367
81479 x 1
,
$990
5368
81479 x 1
,
$1,300
5369
81479 x 1
Cohen syndrome VPS13B
$900
2454
81408 x 1
,
$900
2455
81407 x 1
,
$1,100
2456
81407 x 1
81408 x 1
Cole-Carpenter syndrome 1 P4HB
$900
2081
81479 x 1
,
$900
2082
81479 x 1
,
$1,100
2083
81479 x 1
Cole-Carpenter syndrome 2 SEC24D
$900
2084
81479 x 1
,
$900
2085
81479 x 1
,
$1,100
2086
81479 x 1
Cole-Carpenter syndrome NGS panel P4HB, SEC24D
$1,100
5188
81479 x 1
,
$990
5189
81479 x 1
,
$1,300
5190
81479 x 1
Congenital contractural arachnodactyly FBN2
$900
1081
81479 x 1
,
$900
1082
81479 x 1
,
$1,100
1508
81479 x 1
Congenital contracture syndrome extended NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24, FBN2
$1,300
5294
81406 x 1
81479 x 1
,
$990
5295
81479 x 1
,
$1,500
5296
81406 x 1
81479 x 1
Congenital heart disease NGS panel CHD7, GATA4, GATA6, GDF1, NKX2-5, NKX2-6, NOTCH1, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3, ELN, JAG1, NOTCH2
$1,100
5148
81405 x 1
81407 x 1
81479 x 1
,
$990
5149
81406 x 1
81479 x 1
,
$1,300
5150
81405 x 1
81406 x 1
81407 x 1
81479 x 1
Connective tissue disorder NGS panel ACTA2, ADAMTS2, AEBP1, B3GALT6, B4GALT7, BGN, C1R, C1S, CHST14, COL12A1, DCHS1, DSE, FKBP14, FLCN, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, NOTCH1, SMAD2, TGFB3, FBN1, FBN2, FLNA, ATP7A, CBS, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, MYH11, MYLK, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2, ZNF469
$1,400
5433
81401 x 1
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
,
$990
5434
81405 x 1
81479 x 1
,
$1,600
5435
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Cornelia de Lange syndrome 1 NIPBL
$900
2424
81479 x 1
,
$900
2425
81479 x 1
,
$1,100
2426
81479 x 1
Cornelia de Lange syndrome and related disorders NGS panel AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3
$1,100
5181
81405 x 1
81479 x 1
,
$990
5182
81479 x 1
,
$1,300
5183
81405 x 1
81479 x 1
Craniodiaphyseal dysplasia, autosomal dominant SOST
$445
1787
81479 x 1
,
$900
1788
81479 x 1
,
$1,100
1789
81479 x 1
Cranioectodermal dysplasia 2 WDR35
$900
1083
81479 x 1
,
$900
1084
81479 x 1
,
$1,100
1509
81479 x 1
Cranioectodermal dysplasia 4 WDR19
$900
1085
81479 x 1
,
$900
1086
81479 x 1
,
$1,100
1510
81479 x 1
Craniofrontonasal syndrome EFNB1
$570
1930
81479 x 1
,
$900
1931
81479 x 1
,
$1,100
1932
81479 x 1
Craniometaphyseal dysplasia, autosomal dominant ANKH
$900
1087
81479 x 1
,
$900
1511
81479 x 1
,
$1,100
1512
81479 x 1
Craniosynostosis core NGS panel TCF12, FGFR3, FGFR2, FGFR1, TWIST1
$1,100
5194
81404 x 1
81405 x 1
81479 x 1
,
$990
5195
81403 x 1
81479 x 1
,
$1,300
5196
81403 x 1
81404 x 1
81405 x 1
81479 x 1
Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FREM1, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SLC25A24, TCF12, ZIC1, FGFR3, FGFR2, FGFR1, IFT43, IFT122, GLI3, SKI, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35
$1,300
5085
81479 x 1
81405 x 1
81404 x 1
,
$990
5086
81479 x 1
81403 x 1
,
$1,500
5087
81479 x 1
81405 x 1
81404 x 1
81403 x 1
Craniosynostosis, type 1 TWIST1
$445
1092
81404 x 1
,
$900
1093
81403 x 1
,
$1,100
1513
81404 x 1
81403 x 1
Cutaneomucosal venous malformations TEK
$900
1733
81479 x 1
,
$900
1734
81479 x 1
,
$1,100
1735
81479 x 1
Cutis laxa NGS panel ALDH18A1, ATP6V1A, ATP6V1E1, FBLN5, EFEMP2, ELN, ATP6V0A2, LTBP4, PYCR1
$1,100
1712
81479 x 1
,
$990
1713
81479 x 1
,
$1,300
1714
81479 x 1
Cutis laxa, autosomal dominant 1 ELN
$900
1515
81479 x 1
,
$900
1516
81479 x 1
,
$1,100
1517
81479 x 1
Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA FBLN5
$900
1107
81479 x 1
,
$900
1108
81479 x 1
,
$1,100
1518
81479 x 1
Cutis laxa, autosomal recessive 1B EFEMP2
$900
1109
81479 x 1
,
$900
1110
81479 x 1
,
$1,100
1523
81479 x 1
Cutis laxa, autosomal recessive IC LTBP4
$900
1697
81479 x 1
,
$900
1698
81479 x 1
,
$1,100
1699
81479 x 1
Cutis laxa, autosomal recessive IIA ATP6V0A2
$900
1700
81479 x 1
,
$900
1701
81479 x 1
,
$1,100
1702
81479 x 1
Cutis laxa, autosomal recessive IIIA ALDH18A1
$900
1706
81479 x 1
,
$900
1707
81479 x 1
,
$1,100
1708
81479 x 1
Cutis laxa, autosomal recessive, type IIB & type IIIB PYCR1
$900
1703
81479 x 1
,
$900
1704
81479 x 1
,
$1,100
1705
81479 x 1
Czech dysplasia COL2A1
$900
2319
81479 x 1
,
$900
2320
81479 x 1
,
$1,100
2321
81479 x 1
Darier-White disease ATP2A2
$900
5370
81479 x 1
,
$900
5371
81479 x 1
,
$1,100
5372
81479 x 1
Dense bone dysplasia NGS panel DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, TBXAS1, TNFRSF11B, TYROBP, ANKH, COL1A1, SOST, TGFB1
$1,100
5088
81479 x 1
81408 x 1
,
$990
5089
81479 x 1
,
$1,300
5090
81479 x 1
81408 x 1
Desbuquois dysplasia 1 CANT1
$900
1113
81479 x 1
,
$900
1114
81479 x 1
,
$1,100
1524
81479 x 1
Desbuquois dysplasia 2 XYLT1
$900
1851
81479 x 1
,
$900
1852
81479 x 1
,
$1,100
1853
81479 x 1
Desbuquois dysplasia and related disorders NGS panel B3GALT6, B3GAT3, CHST3, CSGALNACT1, GZF1, IMPAD1, FLNB, CANT1, KIF22, SLC26A2, XYLT1
$1,100
5124
81479 x 1
,
$990
5125
81479 x 1
,
$1,300
5126
81479 x 1
Desbuquois dysplasia core NGS panel CSGALNACT1, IMPAD1, CANT1, XYLT1
$1,050
1854
81479 x 1
,
$990
1855
81479 x 1
,
$1,250
1856
81479 x 1
Diamond-Blackfan anemia NGS panel GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2
$1,100
5288
81405 x 1
81479 x 1
,
$990
5289
81479 x 1
,
$1,300
5290
81405 x 1
81479 x 1
Diaphanospondylodysostosis BMPER
$900
1115
81479 x 1
,
$900
1525
81479 x 1
,
$1,100
1526
81479 x 1
Diastrophic dysplasia SLC26A2
$600
1116
81479 x 1
,
$900
1117
81479 x 1
,
$1,100
1527
81479 x 1
Digital arthropathy-brachydactyly, familial TRPV4
$900
1118
81479 x 1
,
$900
1762
81479 x 1
,
$1,100
1763
81479 x 1
Distal arthrogryposes NGS panel ECEL1, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, FBN2
$1,100
5133
81479 x 1
,
$990
5134
81479 x 1
,
$1,300
5135
81479 x 1
Distal hereditary motor neuropathy and related disorders NGS panel BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, ATP7A, TRPV4
$1,300
5200
81404 x 1
81405 x 1
81406 x 1
81479 x 1
,
$990
5201
81479 x 1
,
$1,500
5202
81404 x 1
81405 x 1
81406 x 1
81479 x 1
Distal Myopathy NGS panel ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
$1,300
5238
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
,
$990
5239
81479 x 1
,
$1,500
5240
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Dyggve-Melchior-Clausen disease DYM
$900
1119
81479 x 1
,
$900
1120
81479 x 1
,
$1,100
1528
81479 x 1
Dyggve-Melchior-Clausen disease NGS panel RAB33B, DYM
$1,100
5297
81479 x 1
,
$990
5298
81479 x 1
,
$1,300
5299
81479 x 1
Dyskeratosis congenita NGS panel ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
$1,100
5203
81479 x 1
,
$990
5204
81479 x 1
,
$1,300
5205
81479 x 1
Dyssegmental dysplasia, Silverman-Handmaker type HSPG2
$900
1121
81479 x 1
,
$900
1122
81479 x 1
,
$1,100
1529
81479 x 1
Ectodermal dysplasia 1, hypohidrotic, X-linked EDA
$730
2029
81479 x 1
,
$900
2030
81479 x 1
,
$1,100
2031
81479 x 1
Ectodermal dysplasia NGS panel EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, KRT74, KRT85, MSX1
$1,100
5206
81479 x 1
,
$990
5207
81479 x 1
,
$1,300
5208
81479 x 1
Ectopia lentis NGS panel ADAMTSL4, FBN1
$1,100
5163
81408 x 1
81479 x 1
,
$990
5164
81479 x 1
,
$1,300
5165
81479 x 1
81408 x 1
Ectopia lentis, isolated, autosomal dominant FBN1
$900
1123
81408 x 1
,
$900
1124
81479 x 1
,
$1,100
1530
81408 x 1
81479 x 1
Ectopia lentis, isolated, autosomal recessive ADAMTSL4
$900
1125
81479 x 1
,
$900
1126
81479 x 1
,
$1,100
1531
81479 x 1
Ehlers-Danlos syndrome core NGS panel COL5A2, COL5A1, COL3A1
$1,050
5209
81479 x 1
,
$990
5210
81479 x 1
,
$1,250
5211
81479 x 1
Ehlers-Danlos syndrome NGS panel - Dominant C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
$1,100
5064
81408 x 1
81479 x 1
,
$990
5065
81479 x 1
,
$1,300
5066
81408 x 1
81479 x 1
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, DSE, FKBP14, FLNA, ATP7A, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, PLOD1, PRDM5, SLC39A13, ZNF469
$1,300
5067
81408 x 1
81479 x 1
,
$990
5068
81479 x 1

Pages