Stickler syndrome NGS panel LOXL3, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, VCAN
$1,250
5129
81479 x 1
Stickler syndrome NGS panel - Recessive COL9A1, COL9A2, COL9A3
$1,050
1330
81479 x 1
,
$990
1660
81479 x 1
,
$1,300
1661
81479 x 1
Stickler syndrome, type I COL2A1
$900
1331
81479 x 1
,
$900
1332
81479 x 1
,
$1,100
1662
81479 x 1
Stickler syndrome, type II COL11A1
$900
1333
81479 x 1
,
$900
1334
81479 x 1
,
$1,100
1663
81479 x 1
Stickler syndrome, type III COL11A2
$900
1335
81479 x 1
,
$900
1336
81479 x 1
,
$1,100
1664
81479 x 1
Stiff skin syndrome FBN1
$900
1442
81408 x 1
,
$900
2445
81479 x 1
,
$1,100
2446
81408 x 1
81479 x 1
Stuve-Wiedemann syndrome LIFR
$900
1338
81479 x 1
,
$900
1339
81479 x 1
,
$1,100
1667
81479 x 1
Supravalvular aortic stenosis ELN
$900
1668
81479 x 1
,
$900
1669
81479 x 1
,
$1,100
1670
81479 x 1
Terminal osseous dysplasia FLNA
$900
2207
81479 x 1
,
$900
5285
81479 x 1
,
$1,100
5286
81479 x 1
Thanatophoric dysplasia, type I / II FGFR3
$900
1340
81479 x 1
Thanatophoric dysplasia, type I / II Option 1 FGFR3
$900
1758
81479 x 1
,
$1,100
1759
81479 x 1
,
$570
1341
81404 x 1
Three M syndrome 1 CUL7
$900
1343
81479 x 1
,
$900
1344
81479 x 1
,
$1,100
1671
81479 x 1
Three M syndrome 2 OBSL1
$900
1345
81479 x 1
,
$900
1346
81479 x 1
,
$1,100
1672
81479 x 1
Three M syndrome 3 CCDC8
$595
1347
81479 x 1
,
$900
1348
81479 x 1
,
$1,100
1673
81479 x 1
Three M syndrome NGS panel CUL7, CCDC8, OBSL1
$1,100
5172
81479 x 1
,
$990
5173
81479 x 1
,
$1,300
5174
81479 x 1
Thrombocytopenia 1 WAS
$650
2415
81406 x 1
,
$900
2416
81479 x 1
,
$1,100
2417
81406 x 1
81479 x 1
Thrombocytopenia and absent radius syndrome RBM8A
$675
1349
81479 x 1
,
$900
1350
81479 x 1
,
$1,100
1674
81479 x 1
Thrombocytopenia NGS Panel ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, GBA, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RUNX1, SLFN14, SMPD1, SRC, TBXAS1, TUBB1, WAS, WIPF1, RBM8A
$1,300
5224
81406 x 1
81479 x 1
,
$990
5225
81479 x 1
,
$1,500
5226
81406 x 1
81479 x 1
Tooth agenesis, selective, 1 MSX1
$617
1351
81479 x 1
,
$900
1352
81479 x 1
,
$1,100
1675
81479 x 1
Tooth agenesis, selective, 4 WNT10A
$530
2003
81479 x 1
,
$900
2004
81479 x 1
,
$1,100
2005
81479 x 1
Torg-Winchester syndrome MMP2
$900
1353
81479 x 1
,
$900
1354
81479 x 1
,
$1,100
1676
81479 x 1
Treacher Collins syndrome 1 TCOF1
$900
1355
81479 x 1
,
$900
1356
81479 x 1
,
$1,100
1677
81479 x 1
Treacher Collins syndrome 2 POLR1D
$530
1357
81479 x 1
,
$900
1358
81479 x 1
,
$1,100
1678
81479 x 1
Treacher Collins syndrome 3 POLR1C
$630
1359
81479 x 1
,
$900
1360
81479 x 1
,
$1,100
1679
81479 x 1
Treacher Collins syndrome and related disorders NGS panel DHODH, EDNRA, EFTUD2, POLR1A, SF3B4, TXNL4A, POLR1C, POLR1D, TCOF1
$1,100
5175
81479 x 1
,
$990
5176
81479 x 1
,
$1,300
5177
81479 x 1
Treacher Collins syndrome core NGS panel POLR1C, POLR1D, TCOF1
$1,000
5303
81479 x 1
,
$990
5304
81479 x 1
,
$1,200
5305
81479 x 1
Trichodentoosseus syndrome DLX3
$495
1915
81479 x 1
,
$900
1916
81479 x 1
,
$1,100
1917
81479 x 1
Trichorhinophalangeal syndrome, type I / III TRPS1
$900
1361
81479 x 1
,
$900
1362
81479 x 1
,
$1,100
1680
81479 x 1
Trichothiodystrophy NGS panel ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A
$1,100
5385
81479 x 1
,
$990
5386
81479 x 1
,
$1,300
5387
81479 x 1
Tuberous sclerosis NGS panel TSC1, TSC2
$990
5342
81406 x 1
81407 x 1
,
$990
5343
81405 x 1
81406 x 1
,
$1,190
5344
81405 x 1
81406 x 1
81407 x 1
Van Buchem disease, type 2 LRP5
$900
1369
81406 x 1
,
$900
1370
81479 x 1
,
$1,100
1683
81406 x 1
81479 x 1
Van der Woude syndrome 1 IRF6
$900
2307
81479 x 1
,
$900
2308
81479 x 1
,
$1,100
2309
81479 x 1
Van der Woude syndrome 2 GRHL3
$900
2310
81479 x 1
,
$900
2311
81479 x 1
,
$1,100
2312
81479 x 1
Van der Woude syndrome NGS panel GRHL3, IRF6
$990
2313
81479 x 1
,
$990
2314
81479 x 1
,
$1,190
2315
81479 x 1
Van Maldergem syndrome 1 DCHS1
$900
2345
81479 x 1
,
$900
2346
81479 x 1
,
$1,100
2347
81479 x 1
Vascular malformations NGS panel ACVRL1, BMPR2, CAV1, EIF2AK4, ELMO2, FOXF1, GATA2, KCNK3, PTEN, SMAD9, ENG, GDF2, GLMN, CCM2, KRIT1, PDCD10, RASA1, SMAD4, TEK
$1,100
5178
81406 x 1
81479 x 1
81321 x 1
,
$990
5179
81405 x 1
81479 x 1
81323 x 1
,
$1,300
5180
81405 x 1
81406 x 1
81479 x 1
81321 x 1
81323 x 1
Vitreoretinopathy NGS panel BEST1, CAPN5, COL18A1, KCNJ13, KIF11, NR2E3, RS1, ZNF408, FZD4, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, LRP5, NDP, TSPAN12, VCAN
$1,100
5227
81404 x 1
81406 x 1
81479 x 1
,
$990
5228
81479 x 1
,
$1,300
5229
81404 x 1
81406 x 1
81479 x 1
Waardenburg syndrome NGS panel EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
$1,100
5244
81404 x 1
81479 x 1
,
$990
5245
81479 x 1
,
$1,300
5246
81404 x 1
81479 x 1
Wagner vitreoretinopathy VCAN
$900
1371
81479 x 1
,
$900
1372
81479 x 1
,
$1,100
1684
81479 x 1
Weaver and Cohen-Gibson syndrome NGS panel EED, EZH2
$1,000
5265
81479 x 1
,
$990
5266
81479 x 1
,
$1,200
5267
81479 x 1
Weaver syndrome EZH2
$900
1981
81479 x 1
,
$900
1982
81479 x 1
,
$1,100
1983
81479 x 1
Weill-Marchesani syndrome 1 ADAMTS10
$900
1375
81479 x 1
,
$900
1376
81479 x 1
,
$1,100
1686
81479 x 1
Weill-Marchesani syndrome 2 FBN1
$900
1373
81408 x 1
,
$900
1374
81479 x 1
,
$1,100
1685
81408 x 1
81479 x 1
Weill-Marchesani syndrome 3 LTBP2
$900
1724
81479 x 1
,
$900
1725
81479 x 1
,
$1,100
1726
81479 x 1
Weill-Marchesani syndrome NGS panel ADAMTS10, ADAMTS17, FBN1, LTBP2
$1,100
1730
81408 x 1
81479 x 1
,
$990
1731
81479 x 1
,
$1,300
1732
81408 x 1
81479 x 1
Weill-Marchesani-like syndrome ADAMTS17
$900
1727
81479 x 1
,
$900
1728
81479 x 1
,
$1,100
1729
81479 x 1
Weissenbacher-Zweymuller syndrome COL11A2
$900
1377
81479 x 1
,
$900
1378
81479 x 1
,
$1,100
1687
81479 x 1
Wilson disease ATP7B
$900
1381
81406 x 1
,
$900
1382
81479 x 1
,
$1,100
1689
81406 x 1
81479 x 1
Wiskott-Aldrich syndrome WAS
$650
2418
81406 x 1
,
$900
2419
81479 x 1
,
$1,100
2420
81406 x 1
81479 x 1
Witkop syndrome MSX1
$617
1383
81479 x 1
,
$900
1384
81479 x 1
,
$1,100
1690
81479 x 1
Wolcott-Rallison syndrome EIF2AK3
$900
1385
81479 x 1
,
$900
1386
81479 x 1
,
$1,100
1691
81479 x 1
Wolman disease LIPA
$650
2421
81479 x 1
,
$900
2422
81479 x 1
,
$1,100
2423
81479 x 1
Xeroderma pigmentosum NGS panel DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
$1,100
5388
81479 x 1
,
$990
5389
81479 x 1
,
$1,300
5390
81479 x 1
Zimmermann-Laband syndrome 1 KCNH1
$900
2198
81479 x 1
,
$900
2199
81479 x 1
,
$1,100
2200
81479 x 1
Zimmermann-Laband syndrome 2 ATP6V1B2
$900
2201
81479 x 1
,
$900
2202
81479 x 1
,
$1,100
2203
81479 x 1
Zimmermann-Laband syndrome NGS panel ATP6V1B2, KCNH1
$1,100
2204
81479 x 1
,
$990
2205
81479 x 1
,
$1,300
2206
81479 x 1

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