Oculodentodigital dysplasia GJA1
$1,100
2414
81479 x 1
Odontoonychodermal dysplasia WNT10A
$530
1994
81479 x 1
,
$900
1995
81479 x 1
,
$1,100
1996
81479 x 1
Ohdo syndrome, SBBYS variant KAT6B
$900
1811
81479 x 1
,
$900
1812
81479 x 1
,
$1,100
1813
81479 x 1
Oligodontia - Selective tooth agenesis NGS panel AXIN2, EDA, LRP6, LTBP3, PAX9, PTH1R, WNT10A, WNT10B, MSX1
$1,100
5169
81479 x 1
,
$990
5170
81479 x 1
,
$1,300
5171
81479 x 1
Omodysplasia NGS panel FZD2, GPC6
$1,100
1213
81479 x 1
,
$990
1214
81479 x 1
,
$1,300
1595
81479 x 1
Opitz GBBB syndrome NGS panel MID1, SPECC1L
$1,100
5355
81479 x 1
,
$990
5356
81479 x 1
,
$1,300
5357
81479 x 1
Opsismodysplasia INPPL1
$900
1596
81479 x 1
,
$900
1597
81479 x 1
,
$1,100
1598
81479 x 1
Orofaciodigital syndrome I OFD1
$900
2280
81479 x 1
,
$900
2281
81479 x 1
,
$1,100
2282
81479 x 1
Osteoarthritis with mild chondrodysplasia COL2A1
$900
1215
81479 x 1
,
$900
1837
81479 x 1
,
$1,100
1838
81479 x 1
Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel COL1A2, COL1A1
$1,000
1216
81408 x 1
,
$990
1599
81479 x 1
,
$1,200
1600
81408 x 1
81479 x 1
Osteogenesis imperfecta core NGS panel IFITM5, COL1A2, COL1A1
$1,050
5232
81408 x 1
81479 x 1
,
$990
5233
81479 x 1
,
$1,250
5234
81408 x 1
81479 x 1
Osteogenesis imperfecta NGS panel - Dominant ANO5, P4HB, IFITM5, ALPL, COL1A2, COL1A1, PLS3
$1,100
5097
81479 x 1
81408 x 1
81406 x 1
,
$990
5098
81479 x 1
,
$1,300
5099
81479 x 1
81408 x 1
81406 x 1
Osteogenesis imperfecta NGS panel - Dominant & Recessive ANO5, FKBP10, MBTPS2, P3H1, P4HB, SEC24D, SPARC, TAPT1, TMEM38B, WNT1, XYLT2, IFITM5, BMP1, ALPL, CRTAP, CREB3L1, COL1A2, COL1A1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7
$1,300
5100
81408 x 1
81479 x 1
81406 x 1
,
$990
5101
81479 x 1
,
$1,500
5102
81408 x 1
81479 x 1
81406 x 1
Osteogenesis imperfecta NGS panel - Recessive FKBP10, MBTPS2, P3H1, SEC24D, SPARC, TAPT1, TMEM38B, WNT1, XYLT2, BMP1, ALPL, CRTAP, CREB3L1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7
$1,250
5103
81479 x 1
,
$990
5104
81479 x 1
,
$1,450
5105
81479 x 1
Osteogenesis imperfecta, PLS3 related PLS3
$900
1899
81479 x 1
,
$900
1900
81479 x 1
,
$1,100
1901
81479 x 1
Osteogenesis imperfecta, type IX PPIB
$615
1227
81479 x 1
,
$900
1228
81479 x 1
,
$1,100
1609
81479 x 1
Osteogenesis imperfecta, type V IFITM5
$445
1219
81479 x 1
,
$900
1220
81479 x 1
,
$1,100
1605
81479 x 1
Osteogenesis imperfecta, type VI SERPINF1
$725
1221
81479 x 1
,
$900
1222
81479 x 1
,
$1,100
1606
81479 x 1
Osteogenesis imperfecta, type VII CRTAP
$725
1223
81479 x 1
,
$900
1224
81479 x 1
,
$1,100
1607
81479 x 1
Osteogenesis imperfecta, type VIII P3H1
$900
1225
81479 x 1
,
$900
1226
81479 x 1
,
$1,100
1608
81479 x 1
Osteogenesis imperfecta, type X SERPINH1
$495
1229
81479 x 1
,
$900
1230
81479 x 1
,
$1,100
1610
81479 x 1
Osteogenesis imperfecta, type XI FKBP10
$790
1231
81479 x 1
,
$900
1232
81479 x 1
,
$1,100
1611
81479 x 1
Osteogenesis imperfecta, type XII SP7
$445
1233
81479 x 1
,
$900
1234
81479 x 1
,
$1,100
1612
81479 x 1
Osteogenesis imperfecta, type XIII BMP1
$900
1235
81479 x 1
,
$900
1236
81479 x 1
,
$1,100
1613
81479 x 1
Osteogenesis imperfecta, type XVI CREB3L1
$900
1878
81479 x 1
,
$900
1879
81479 x 1
,
$1,100
1880
81479 x 1
Osteogenesis imperfecta, type XVII SPARC
$750
2174
81479 x 1
,
$900
2175
81479 x 1
,
$1,100
2176
81479 x 1
Osteogenesis imperfecta, types I, II, III & IV COL1A1
$900
1601
81408 x 1
,
$900
1217
81479 x 1
,
$1,100
1602
81408 x 1
81479 x 1
Osteogenesis imperfecta, types I, II, III & IV COL1A2
$900
1603
81408 x 1
,
$900
1218
81479 x 1
,
$1,100
1604
81408 x 1
81479 x 1
Osteopathia striata with cranial sclerosis AMER1
$900
1814
81479 x 1
,
$900
1815
81479 x 1
,
$1,100
1816
81479 x 1
Osteopetrosis and Dense bone dysplasia NGS panel DLX3, FAM20C, FERMT3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SNX10, TBXAS1, TNFRSF11B, TYROBP, CA2, ANKH, AMER1, CTSK, CLCN7, COL1A1, LEMD3, LRP5, OSTM1, PLEKHM1, SOST, TCIRG1, TGFB1, TNFRSF11A, TNFSF11
$1,300
5109
81479 x 1
81406 x 1
81408 x 1
,
$990
5110
81479 x 1
,
$1,500
5111
81479 x 1
81406 x 1
81408 x 1
Osteopetrosis core NGS panel CLCN7, OSTM1, TCIRG1
$1,000
1253
81479 x 1
,
$990
1621
81479 x 1
,
$1,200
1622
81479 x 1
Osteopetrosis NGS panel FAM20C, FERMT3, SNX10, CA2, AMER1, CTSK, CLCN7, LEMD3, LRP5, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11
$1,100
5106
81479 x 1
81406 x 1
,
$990
5107
81479 x 1
,
$1,300
5108
81479 x 1
81406 x 1
Osteopetrosis with renal tubular acidosis 3 CA2
$900
1254
81479 x 1
,
$900
1255
81479 x 1
,
$1,100
1623
81479 x 1
Osteopetrosis, autosomal dominant 1 LRP5
$900
1238
81406 x 1
,
$900
1239
81479 x 1
,
$1,100
1614
81406 x 1
81479 x 1
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 CLCN7
$900
1240
81479 x 1
,
$900
1241
81479 x 1
,
$1,100
1615
81479 x 1
Osteopetrosis, autosomal recessive 1 TCIRG1
$900
1242
81479 x 1
,
$900
1243
81479 x 1
,
$1,100
1616
81479 x 1
Osteopetrosis, autosomal recessive 2 TNFSF11
$900
1244
81479 x 1
,
$900
1245
81479 x 1
,
$1,100
1617
81479 x 1
Osteopetrosis, autosomal recessive 5 OSTM1
$900
1248
81479 x 1
,
$900
1249
81479 x 1
,
$1,100
1619
81479 x 1
Osteopetrosis, autosomal recessive 6 PLEKHM1
$900
1250
81479 x 1
,
$900
2447
81479 x 1
,
$1,100
2448
81479 x 1
Osteopetrosis, autosomal recessive 7 TNFRSF11A
$900
1251
81479 x 1
,
$900
1252
81479 x 1
,
$1,100
1620
81479 x 1
Osteoporosis-pseudoglioma syndrome LRP5
$900
1256
81406 x 1
,
$900
1257
81479 x 1
,
$1,100
1624
81406 x 1
81479 x 1
Otopalatodigital syndrome, type I / II FLNA
$900
1258
81479 x 1
,
$900
5281
81479 x 1
,
$1,100
5282
81479 x 1
Otospondylomegaepiphyseal dysplasia COL11A2
$900
1259
81479 x 1
,
$900
1260
81479 x 1
,
$1,100
1625
81479 x 1
Overgrowth syndrome NGS panel DNMT3A, EED, EZH2, GPC3, NFIX, NSD1, OFD1, PDGFRB, PIGA, SETD2, FBN1
$1,100
1984
81406 x 1
81479 x 1
81408 x 1
,
$990
1985
81405 x 1
81479 x 1
,
$1,300
1986
81406 x 1
81479 x 1
81405 x 1
81408 x 1
Paget disease of bone 2 TNFRSF11A
$900
2372
81479 x 1
,
$900
2373
81479 x 1
,
$1,100
2374
81479 x 1
Paget disease of bone 3 SQSTM1
$900
2375
81479 x 1
,
$900
2376
81479 x 1
,
$1,100
2377
81479 x 1
Paget disease of bone 5 TNFRSF11B
$900
2378
81479 x 1
,
$900
2379
81479 x 1
,
$1,100
2380
81479 x 1
Paget disease of bone 6 ZNF687
$900
2381
81479 x 1
,
$900
2382
81479 x 1
,
$1,100
2383
81479 x 1
Paget disease of bone and related disorders NGS panel HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11B, VCP, ZNF687, TNFRSF11A
$1,100
2384
81479 x 1
,
$990
2385
81479 x 1
,
$1,300
2386
81479 x 1
Pallister-Hall syndrome GLI3
$900
1261
81479 x 1
,
$900
1262
81479 x 1
,
$1,100
1626
81479 x 1
Parastremmatic dwarfism TRPV4
$900
1263
81479 x 1
,
$900
1768
81479 x 1
,
$1,100
1769
81479 x 1
Parkes Weber syndrome RASA1
$900
1264
81479 x 1
,
$900
1265
81479 x 1
,
$1,100
1627
81479 x 1
Peeling skin syndrome NGS panel CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5
$1,100
5376
81479 x 1
,
$990
5377
81479 x 1
,
$1,300
5378
81479 x 1
Periventricular nodular heterotopia 1 FLNA
$900
1267
81479 x 1
,
$900
5283
81479 x 1
,
$1,100
5284
81479 x 1
Phosphoglycerate dehydrogenase deficiency PHGDH
$900
2177
81479 x 1
,
$900
2178
81479 x 1
,
$1,100
2179
81479 x 1
Phosphoserine aminotransferase deficiency PSAT1
$900
2180
81479 x 1
,
$900
2181
81479 x 1
,
$1,100
2182
81479 x 1
Platelet bleeding disorders NGS panel ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1
$1,300
5154
81404 x 1
81406 x 1
81408 x 1
81479 x 1
,
$990
5155
81479 x 1
,
$1,500
5156
81404 x 1
81406 x 1
81408 x 1
81479 x 1
Platyspondylic lethal skeletal dysplasia, Torrance type COL2A1
$900
1268
81479 x 1
Platyspondylic lethal skeletal dysplasia, Torrance type Option 1 COL2A1
$900
1269
81479 x 1
,
$1,100
1628
81479 x 1
,
$410
1270
81479 x 1
Pneumothorax, primary spontaneous FLCN
$900
2283
81479 x 1
,
$900
2284
81479 x 1
,
$1,100
2285
81479 x 1
Polycystic kidney disease and related disorders NGS panel ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, MUC1, NPHP3, OFD1, PKD1, PKD2, PKHD1, SEC61A1, TMEM231, TSC1, TSC2, UMOD, ZNF423, LRP5, NOTCH2
$1,300
5336
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
,
$990
5337
81404 x 1
81405 x 1
81406 x 1
81479 x 1
,
$1,500
5338
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Polycystic liver disease NGS panel GANAB, PKD1, PKD2, PKHD1, PRKCSH, SEC63, LRP5
$1,100
5339
81406 x 1
81407 x 1
81408 x 1
81479 x 1
,
$990
5340
81479 x 1
,
$1,300
5341
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Polydactyly, preaxial IV & postaxial, type A1 GLI3
$900
1272
81479 x 1
,
$900
1273
81479 x 1
,
$1,100
1629
81479 x 1
Popliteal pterygium syndrome IRF6
$900
2286
81479 x 1
,
$900
2287
81479 x 1
,
$1,100
2288
81479 x 1
Popliteal pterygium syndrome NGS panel IRF6, RIPK4
$1,100
5412
81479 x 1
,
$990
5413
81479 x 1
,
$1,300
5414
81479 x 1
Popliteal pterygium syndrome, lethal type RIPK4
$900
2289
81479 x 1
,
$900
2290
81479 x 1
,
$1,100
2291
81479 x 1
Porencephaly 1 COL4A1
$900
2183
81408 x 1
,
$900
2184
81479 x 1
,
$1,100
2185
81408 x 1
81479 x 1
Porencephaly 2 COL4A2
$900
2186
81479 x 1
,
$900
2187
81479 x 1
,
$1,100
2188
81479 x 1
Porencephaly NGS panel COL4A1, COL4A2
$1,100
2189
81408 x 1
81479 x 1
,
$990
2190
81479 x 1
,
$1,300
2191
81408 x 1
81479 x 1
Postaxial acrofacial dysostosis DHODH
$900
2192
81479 x 1
,
$900
2193
81479 x 1
,
$1,100
2194
81479 x 1
Progeroid syndromes and related disorders NGS panel AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, LMNA, PDGFRB, POLD1, RECQL4, SLC25A24, WRN, ZMPSTE24, FBN1, PYCR1
$1,300
5379
81406 x 1
81408 x 1
81479 x 1
,
$990
5380
81479 x 1
,
$1,500
5381
81406 x 1
81408 x 1
81479 x 1
Progressive familial heart block type I NGS panel SCN5A, TRPM4
$1,100
5327
81407 x 1
81479 x 1
,
$990
5328
81479 x 1
,
$1,300
5329
81407 x 1
81479 x 1
Progressive pseudorheumatoid arthropathy of childhood WISP3
$595
1276
81479 x 1
,
$900
1277
81479 x 1
,
$1,100
1631
81479 x 1
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome FLVCR2
$900
1278
81479 x 1
,
$900
1279
81479 x 1
,
$1,100
1632
81479 x 1
Pseudoachondroplasia COMP
$900
1280
81479 x 1
Pseudoachondroplasia Option 1 COMP
$900
2076
81479 x 1
,
$1,100
2077
81479 x 1
Pseudoxanthoma elasticum ABCC6
$900
1439
81479 x 1
,
$900
1440
81479 x 1
,
$1,100
1633
81479 x 1
Pseudoxanthoma elasticum NGS panel ABCC6, GGCX
$1,100
2104
81479 x 1
,
$990
2105
81479 x 1
,
$1,300
2106
81479 x 1
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
$900
2101
81479 x 1
,
$900
2102
81479 x 1
,
$1,100
2103
81479 x 1
Pulmonary hypertension NGS panel ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, FOXF1, KCNA5, KCNK3, SMAD9, ENG, GDF2, SMAD4
$1,100
2116
81479 x 1
81406 x 1
,
$990
2117
81479 x 1
81405 x 1
,
$1,300
2118
81406 x 1
81479 x 1
81405 x 1
Pulmonary hypertension, primary, 1 BMPR2
$900
1945
81406 x 1
,
$900
1946
81405 x 1
,
$1,100
1947
81406 x 1
81405 x 1
Pulmonary hypertension, primary, 2 SMAD9
$610
2107
81479 x 1
,
$900
2108
81479 x 1
,
$1,100
2109
81479 x 1
Pulmonary hypertension, primary, 3 CAV1
$490
2110
81479 x 1
,
$900
2111
81479 x 1
,
$1,100
2112
81479 x 1
Pulmonary hypertension, primary, 4 KCNK3
$510
2113
81479 x 1
,
$900
2114
81479 x 1
,
$1,100
2115
81479 x 1
Pulmonary venoocclusive disease 1, autosomal dominant BMPR2
$900
1948
81406 x 1
,
$900
1949
81405 x 1
,
$1,100
1950
81406 x 1
81405 x 1
Pulmonary venoocclusive disease 2, autosomal recessive EIF2AK4
$900
2051
81479 x 1
,
$900
2052
81479 x 1
,
$1,100
2053
81479 x 1
Pycnodysostosis CTSK
$690
1881
81479 x 1
,
$900
1882
81479 x 1
,
$1,100
1883
81479 x 1
Renal tubular dysgenesis NGS panel ACE, AGT, AGTR1, REN
$1,100
5397
81479 x 1
,
$990
5398
81479 x 1
,
$1,300
5399
81479 x 1
Restrictive dermopathy, lethal NGS panel LMNA, ZMPSTE24
$1,100
5382
81406 x 1
81479 x 1
,
$990
5383
81479 x 1
,
$1,300
5384
81406 x 1
81479 x 1
Rhizomelic chondrodysplasia punctata type 1 PEX7
$730
1997
81479 x 1
,
$900
1998
81479 x 1
,
$1,100
1999
81479 x 1
Rhizomelic chondrodysplasia punctata, type 2 GNPAT
$900
2057
81479 x 1
,
$900
2058
81479 x 1
,
$1,100
2059
81479 x 1
Rhizomelic chondrodysplasia punctata, type 3 AGPS
$900
2060
81479 x 1
,
$900
2061
81479 x 1
,
$1,100
2062
81479 x 1
Rickets, hypophosphatemic, autosomal dominant FGF23
$492
1283
81404 x 1
,
$900
2355
81479 x 1
,
$1,100
2356
81404 x 1
81479 x 1
Rickets, hypophosphatemic, autosomal recessive, 1 DMP1
$900
1284
81479 x 1
,
$900
1285
81479 x 1
,
$1,100
1634
81479 x 1
Rickets, hypophosphatemic, autosomal recessive, 2 ENPP1
$900
1286
81479 x 1
,
$900
1287
81479 x 1
,
$1,100
1635
81479 x 1
Rickets, hypophosphatemic, X-linked dominant PHEX
$900
1288
81406 x 1
,
$900
1289
81479 x 1
,
$1,100
1636
81406 x 1
81479 x 1
Rickets, vitamin D-dependent type I CYP27B1
$900
1290
81479 x 1
,
$900
1291
81479 x 1
,
$1,100
1637
81479 x 1
Roberts syndrome & SC phocomelia syndrome ESCO2
$900
1884
81479 x 1
,
$900
1885
81479 x 1
,
$1,100
1886
81479 x 1
Robinow syndrome NGS panel DVL1, DVL3, FZD2, NXN, ROR2, WNT5A
$1,100
2127
81479 x 1
,
$990
2128
81479 x 1
,
$1,300
2129
81479 x 1
Robinow syndrome, autosomal dominant 1 WNT5A
$590
1817
81479 x 1
,
$900
1818
81479 x 1
,
$1,100
1819
81479 x 1
Robinow syndrome, autosomal dominant 2 DVL1
$900
2119
81479 x 1
,
$900
2120
81479 x 1
,
$1,100
2121
81479 x 1
Robinow syndrome, autosomal recessive ROR2
$710
1823
81479 x 1
,
$900
1824
81479 x 1
,
$1,100
1825
81479 x 1
Rubinstein-Taybi syndrome 1 CREBBP
$900
2292
81407 x 1
,
$900
2293
81406 x 1
,
$1,100
2294
81407 x 1
81406 x 1
Rubinstein-Taybi syndrome 2 EP300
$900
2295
81479 x 1
,
$900
2296
81479 x 1
,
$1,100
2297
81479 x 1
Rubinstein-Taybi syndrome NGS panel CREBBP, EP300
$1,100
2298
81479 x 1
81407 x 1
,
$990
2299
81479 x 1
81406 x 1
,
$1,300
2300
81479 x 1
81407 x 1
81406 x 1
Saethre-Chotzen syndrome FGFR3, TWIST1
$545
1101
81479 x 1
81404 x 1
,
$900
1102
81403 x 1
,
$1,100
5345
81479 x 1
81403 x 1
81404 x 1
Scapuloperoneal spinal muscular atrophy TRPV4
$900
1292
81479 x 1
,
$900
1770
81479 x 1
,
$1,100
1771
81479 x 1
Schneckenbecken dysplasia, INPPL1 related INPPL1
$900
2301
81479 x 1
,
$900
2302
81479 x 1
,
$1,100
2303
81479 x 1
Schopf-Schulz-Passarge syndrome WNT10A
$530
2000
81479 x 1
,
$900
2001
81479 x 1
,
$1,100
2002
81479 x 1
Schwartz-Jampel syndrome, type 1 HSPG2
$900
1293
81479 x 1
,
$900
1294
81479 x 1
,
$1,100
1638
81479 x 1
Sclerosteosis SOST
$445
1826
81479 x 1
,
$900
1827
81479 x 1
,
$1,100
1828
81479 x 1
Serpentine fibula-polycystic kidney syndrome NOTCH2
$900
1419
81479 x 1
Serpentine fibula-polycystic kidney syndrome Option 1 NOTCH2
$900
1420
81479 x 1
,
$1,100
1639
81479 x 1
Short QT syndrome NGS panel CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
$1,100
5330
81403 x 1
81406 x 1
81479 x 1
,
$990
5331
81479 x 1
,
$1,300
5332
81403 x 1
81406 x 1
81479 x 1
Short stature with endocrinopathy NGS panel BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3
$1,100
5358
81404 x 1
81405 x 1
81406 x 1
81479 x 1
,
$990
5359
81479 x 1
,
$1,300
5360
81404 x 1
81405 x 1
81406 x 1
81479 x 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies BMP2
$900
2457
81479 x 1
,
$900
2458
81479 x 1
,
$1,100
2459
81479 x 1
Short stature, idiopathic, X-linked SHOX
$500
2339
81405 x 1
,
$900
2340
81479 x 1
,
$1,100
2341
81405 x 1
81479 x 1
Short-rib thoracic dysplasia 2 with or without polydactyly IFT80
$900
1040
81479 x 1
,
$900
1041
81479 x 1
,
$1,100
1481
81479 x 1
Short-rib thoracic dysplasia 3 with or without polydactyly DYNC2H1
$900
1298
81479 x 1
,
$900
1299
81479 x 1
,
$1,100
1641
81479 x 1
Short-rib thoracic dysplasia 4 with or without polydactyly TTC21B
$900
1044
81479 x 1
,
$900
1045
81479 x 1
,
$1,100
1483
81479 x 1
Short-rib thoracic dysplasia 5 with or without polydactyly WDR19
$900
1046
81479 x 1
,
$900
1047
81479 x 1
,
$1,100
1484
81479 x 1
Short-rib thoracic dysplasia 6 with or without polydactyly NEK1
$900
1296
81479 x 1
,
$900
1297
81479 x 1
,
$1,100
1640
81479 x 1
Short-rib thoracic dysplasia 7 with or without polydactyly WDR35
$900
1300
81479 x 1
,
$900
1301
81479 x 1
,
$1,100
1642
81479 x 1
Short-rib thoracic dysplasia 8 with or without polydactyly WDR60
$900
1715
81479 x 1
,
$900
1716
81479 x 1
,
$1,100
1717
81479 x 1
Shprintzen-Goldberg craniosynostosis syndrome SKI
$900
1302
81479 x 1
,
$900
1303
81479 x 1
,
$1,100
1643
81479 x 1
Simpson-Golabi-Behmel syndrome, PIGA related PIGA
$630
2387
81479 x 1
,
$900
2388
81479 x 1
,
$1,100
2389
81479 x 1
Simpson-Golabi-Behmel syndrome, type 1 GPC3
$900
1972
81479 x 1
,
$900
1973
81479 x 1
,
$1,100
1974
81479 x 1
Simpson-Golabi-Behmel syndrome, type 2 OFD1
$900
2304
81479 x 1
,
$900
2305
81479 x 1
,
$1,100
2306
81479 x 1
Skeletal ciliopathy NGS panel C21orf2, C2CD3, CEP120, DYNC2LI1, ICK, IFT140, IFT172, IFT52, IFT81, KIAA0586, KIAA0753, TCTEX1D2, WDR34, EVC2, EVC, DYNC2H1, IFT80, IFT43, IFT122, NEK1, TTC21B, WDR19, WDR35, WDR60
$1,300
5112
81479 x 1
,
$990
5113
81479 x 1
,
$1,500
5114
81479 x 1
Skeletal dysplasia and skeletal ciliopathy NGS panel ARSE, C21orf2, C2CD3, CEP120, DDR2, DYNC2LI1, EBP, ICK, IFT140, IFT172, IFT52, IFT81, KIAA0586, KIAA0753, LBR, NSDHL, PEX7, PTH1R, SBDS, SLC35D1, TCTEX1D2, WDR34, EVC2, FGFR3, EVC, DYNC2H1, INPPL1, IFT80, IFT43, IFT122, FLNB, HSPG2, ALPL, COL10A1, COL11A1, COL11A2, COL2A1, COL1A2, COL1A1, LIFR, MMP13, MMP9, NEK1, NKX3-2, RMRP, SLC26A2, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35, WDR60
$1,400
5430
81408 x 1
81479 x 1
,
$990
5431
81479 x 1
,
$1,600
5432
81408 x 1
81479 x 1
Skeletal dysplasia core & extended NGS panel ARSE, DDR2, EBP, LBR, NSDHL, PEX7, PTH1R, SBDS, SLC35D1, FGFR3, INPPL1, FLNB, HSPG2, ALPL, COL10A1, COL11A1, COL11A2, COL2A1, COL1A2, COL1A1, LIFR, MMP13, MMP9, NKX3-2, RMRP, SLC26A2, SOX9, TRIP11, TRPV4
$1,300
5118
81479 x 1
81408 x 1
,
$990
5119
81479 x 1
,
$1,500
5120
81479 x 1
81408 x 1
Skeletal dysplasia core NGS panel FGFR3, INPPL1, ALPL, COL2A1, COL1A2, COL1A1, NKX3-2, SLC26A2, SOX9, TRIP11
$1,100
5115
81479 x 1
81408 x 1
,
$990
5116
81479 x 1
,
$1,300
5117
81479 x 1
81408 x 1
Skeletal dysplasia extended NGS panel ARSE, DDR2, EBP, LBR, NSDHL, PEX7, PTH1R, SBDS, SLC35D1, FLNB, HSPG2, COL10A1, COL11A1, COL11A2, LIFR, MMP13, MMP9, RMRP, TRPV4
$1,100
5121
81479 x 1
,
$990
5122
81479 x 1
,
$1,300
5123
81479 x 1
Skraban-Deardorff syndrome WDR26
$900
2460
81479 x 1
,
$900
2461
81479 x 1
,
$1,100
2462
81479 x 1
Smith-Lemli-Opitz syndrome DHCR7
$900
2439
81405 x 1
,
$900
2443
81479 x 1
,
$1,100
2444
81405 x 1
81479 x 1
Smith-McCort dysplasia DYM
$900
1304
81479 x 1
,
$900
1305
81479 x 1
,
$1,100
1644
81479 x 1
Smith-McCort dysplasia NGS panel RAB33B, DYM
$1,100
5257
81479 x 1
,
$990
5258
81479 x 1
,
$1,300
5259
81479 x 1
Snyder-Robinson mental retardation syndrome SMS
$900
2440
81479 x 1
,
$900
2441
81479 x 1
,
$1,100
2442
81479 x 1
Sotos syndrome 1 NSD1
$900
1975
81406 x 1
,
$900
1976
81405 x 1
,
$1,100
1977
81406 x 1
81405 x 1
Sotos syndrome 2 NFIX
$900
1978
81479 x 1
,
$900
1979
81479 x 1
,
$1,100
1980
81479 x 1
Sotos syndrome and related disorders NGS panel APC2, EZH2, NFIX, NSD1
$1,100
5424
81406 x 1
81479 x 1
,
$990
5425
81405 x 1
81479 x 1
,
$1,300
5426
81405 x 1
81406 x 1
81479 x 1
Spinal muscular atrophy, distal, congenital nonprogressive TRPV4
$900
1306
81479 x 1
,
$900
1772
81479 x 1
,
$1,100
1773
81479 x 1
Spinal muscular atrophy, distal, X-linked 3 ATP7A
$900
1307
81479 x 1
,
$900
1308
81479 x 1
,
$1,100
1645
81479 x 1
Spondylo-Epi-Metaphyseal dysplasias NGS panel ACAN, ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CHST3, DDR2, FN1, GPX4, IDUA, IHH, LONP1, NANS, PAM16, PAPSS2, PTH1R, RAB33B, RNU4ATAC, RSPRY1, SBDS, SMARCAL1, TRAPPC2, FGFR3, DYM, EIF2AK3, INPPL1, IMPAD1, FLNB, HSPG2, CANT1, COL9A1, COL9A2, COMP, COL9A3, COL10A1, COL11A1, COL11A2, COL2A1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NKX3-2, NPR2, PCYT1A, RMRP, RUNX2, SLC26A2, TRPV4, WISP3, XYLT1
$1,400
5185
81406 x 1
81479 x 1
,
$990
5186
81479 x 1
,
$1,600
5187
81406 x 1
81479 x 1
Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2
$490
1890
81479 x 1
,
$900
1891
81479 x 1
,
$1,100
1892
81479 x 1
Spondylocarpotarsal synostosis syndrome FLNB
$900
1309
81479 x 1
,
$900
1310
81479 x 1
,
$1,100
1646
81479 x 1
Spondylocostal dysostosis 1, autosomal recessive DLL3
$650
1423
81479 x 1
,
$900
1424
81479 x 1
,
$1,100
1647
81479 x 1
Spondylocostal dysostosis 2, autosomal recessive MESP2
$570
1425
81479 x 1
,
$900
1426
81479 x 1
,
$1,100
1648
81479 x 1
Spondylocostal dysostosis 3, autosomal recessive LFNG
$650
1427
81479 x 1
,
$900
1428
81479 x 1
,
$1,100
1649
81479 x 1
Spondylocostal dysostosis 4, autosomal recessive HES7
$650
1429
81479 x 1
,
$900
1430
81479 x 1
,
$1,100
1650
81479 x 1
Spondylocostal dysostosis 5, autosomal dominant TBX6
$650
1778
81479 x 1
,
$900
1779
81479 x 1
,
$1,100
1780
81479 x 1
Spondylocostal dysostosis 6, autosomal recessive RIPPLY2
$590
2342
81479 x 1
,
$900
2350
81479 x 1
,
$1,100
2351
81479 x 1
Spondylocostal dysostosis NGS panel RIPPLY2, DLL3, HES7, LFNG, MESP2, TBX6
$1,100
1781
81479 x 1
,
$990
1782
81479 x 1
,
$1,300
1783
81479 x 1
Spondyloenchondrodysplasia with immune dysregulation ACP5
$560
1829
81479 x 1
,
$900
1830
81479 x 1
,
$1,100
1831
81479 x 1
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel B3GALT6, KIF22
$1,100
2069
81479 x 1
,
$990
2070
81479 x 1
,
$1,300
2071
81479 x 1
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
$900
1432
81479 x 1
,
$1,100
1655
81479 x 1
Spondyloepimetaphyseal dysplasia with joint laxity type 2 Option 1 KIF22
$900
1433
81479 x 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6
$900
2066
81479 x 1
,
$900
5263
81479 x 1
,
$1,100
5264
81479 x 1
Spondyloepimetaphyseal dysplasia, Missouri type MMP13
$900
1311
81479 x 1
,
$900
1312
81479 x 1
,
$1,100
1653
81479 x 1
Spondyloepimetaphyseal dysplasia, Strudwick type COL2A1
$900
1313
81479 x 1
,
$900
1314
81479 x 1
,
$1,100
1654
81479 x 1
Spondyloepiphyseal dysplasia congenita COL2A1
$900
1315
81479 x 1
,
$900
1316
81479 x 1
,
$1,100
1656
81479 x 1
Spondyloepiphyseal dysplasia tarda, X-linked TRAPPC2
$490
1318
81479 x 1
,
$900
1319
81479 x 1
,
$1,100
1657
81479 x 1
Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
$900
1320
81479 x 1
,
$900
1321
81479 x 1
,
$1,100
1658
81479 x 1
Spondyloepiphyseal dysplasia, Maroteaux type TRPV4
$900
1317
81479 x 1
,
$900
1774
81479 x 1
,
$1,100
1775
81479 x 1
Spondylometaphyseal dysplasia with cone-rod dystrophy PCYT1A
$650
1832
81479 x 1
,
$900
1833
81479 x 1
,
$1,100
1834
81479 x 1
Spondylometaphyseal dysplasia, Kozlowski type TRPV4
$900
1322
81479 x 1
,
$900
1776
81479 x 1
,
$1,100
1777
81479 x 1
Spondyloocular syndrome XYLT2
$900
2195
81479 x 1
,
$900
2196
81479 x 1
,
$1,100
2197
81479 x 1
Spondyloperipheral dysplasia COL2A1
$900
1323
81479 x 1
Spondyloperipheral dysplasia Option 1 COL2A1
$900
1324
81479 x 1
,
$1,100
1659
81479 x 1
,
$410
1325
81479 x 1
Steel syndrome COL27A1
$900
2430
81479 x 1
,
$900
2431
81479 x 1
,
$1,100
2432
81479 x 1
Stickler syndrome core NGS panel COL11A1, COL11A2, COL2A1
$1,050
1337
81479 x 1
,
$990
1665
81479 x 1
,
$1,250
1666
81479 x 1
Stickler syndrome NGS panel LOXL3, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, VCAN
$1,100
5127
81479 x 1
,
$990
5128
81479 x 1

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