| Disorder | Genes |
|
||||||||||||||||||
| Ablepharon-macrostomia syndrome | TWIST2 |
$445 2138
81479 x 1
$680 2139
81479 x 1
$1,025 2140
81479 x 2
|
| Achondrogenesis, type IB - SLC26A2 | SLC26A2 |
$1,095 1445
81479 x 2
$600 1003
81479 x 1
$990 1004
81479 x 1
|
| Achondroplasia / Hypochondroplasia | FGFR3 |
$990 1007
81479 x 1
$725 1008
81479 x 1
$990 1756
81479 x 1
|
| Achondroplasia / Hypochondroplasia Option 1 | FGFR3 |
$1,365 1757
81479 x 2
|
| Acrofacial dysostosis 1, Nager type | SF3B4 |
$1,195 1990
81479 x 2
$650 1988
81479 x 1
$990 1989
81479 x 1
|
| Acromicric dysplasia | FBN1 |
$445 1012
81479 x 1
|
| Alpha-1-antitrypsin deficiency | SERPINA1 |
$630 2397
81479 x 1
$680 2398
81479 x 1
$1,210 2399
81479 x 2
|
| Amelogenesis imperfecta, type IV | DLX3 |
$995 1914
81479 x 2
$495 1912
81479 x 1
$990 1913
81479 x 1
|
| Anauxetic dysplasia | RMRP |
$995 1894
81479 x 2
$350 1019
81479 x 1
$990 1893
81479 x 1
|
| Aortic aneurysm, familial thoracic 3 | TGFBR2 |
$1,095 1464
81405 x 1
81479 x 1
$600 1020
81405 x 1
$990 1021
81479 x 1
|
| Aortic aneurysm, familial thoracic 5 | TGFBR1 |
$1,095 1468
81405 x 1
81479 x 1
$600 1025
81405 x 1
$990 1026
81479 x 1
|
| Aortic aneurysm, familial thoracic 6 | ACTA2 |
$1,095 1473
81405 x 1
81479 x 1
$599 1029
81405 x 1
$990 1030
81479 x 1
|
| Aortic aneurysm, familial thoracic 9 | MFAP5 |
$1,195 2011
81479 x 2
$685 2009
81479 x 1
$990 2010
81479 x 1
|
| Apert syndrome Option 1 | FGFR2 |
FGFR2 Exon 8 only $350 1088
81479 x 1
|
| Apert syndrome Option 2 | FGFR2 |
Reflex to remaining FGFR2 exons $1,073 1089
81479 x 1
|
| Arterial tortuosity syndrome | SLC2A10 |
$1,195 1480
81479 x 2
$615 1038
81479 x 1
$990 1039
81479 x 1
|
| Atelosteogenesis, type I / III | FLNB |
$990 1048
81479 x 1
$1,365 2391
81479 x 2
$990 2390
81479 x 1
|
| Atelosteogenesis, type I / III Option 1 | FLNB |
$495 1049
81479 x 1
|
| Atelosteogenesis, type II | SLC26A2 |
$1,095 1485
81479 x 2
$600 1051
81479 x 1
$990 1052
81479 x 1
|
| Barber-Say syndrome | TWIST2 |
$445 2147
81479 x 1
$680 2148
81479 x 1
$1,025 2149
81479 x 2
|
| Beare-Stevenson cutis gyrata syndrome | FGFR2 |
$445 1091
81404 x 1
|
| Boomerang dysplasia | FLNB |
$990 1060
81479 x 1
$1,365 2393
81479 x 2
$990 2392
81479 x 1
|
| Boomerang dysplasia Option 1 | FLNB |
$495 1061
81479 x 1
|
| Branchiooculofacial syndrome | TFAP2A |
$730 2078
81479 x 1
$680 2079
81479 x 1
$1,310 2080
81479 x 2
|
| Campomelic dysplasia | SOX9 |
$1,295 1491
81479 x 2
$780 1072
81479 x 1
$990 1073
81479 x 1
|
| Cantu syndrome, KCNJ8 related | KCNJ8 |
$995 2228
81479 x 2
$490 2226
81479 x 1
$990 2227
81479 x 1
|
| Cartilage-hair hypoplasia | RMRP |
$995 1896
81479 x 2
$350 1078
81479 x 1
$990 1895
81479 x 1
|
| Chondrodysplasia with joint dislocations, GPAPP type | IMPAD1 |
$1,195 1850
81479 x 2
$630 1848
81479 x 1
$990 1849
81479 x 1
|
| Craniodiaphyseal dysplasia, autosomal dominant | SOST |
$995 1789
81479 x 2
$445 1787
81479 x 1
$990 1788
81479 x 1
|
| Craniofrontonasal syndrome | EFNB1 |
$1,095 1932
81479 x 2
$570 1930
81479 x 1
$990 1931
81479 x 1
|
| Craniosynostosis, type 1 | TWIST1 |
$995 1513
81404 x 1
81403 x 1
$445 1092
81404 x 1
$990 1093
81403 x 1
|
| Crouzon syndrome Option 1 | FGFR2 |
FGFR2 Exons 8 & 10 only $445 1094
81404 x 1
|
| Crouzon syndrome Option 2 | FGFR2 |
Reflex to remaining FGFR2 exons $978 1095
81479 x 1
|
| Crouzon syndrome with acanthosis nigricans | FGFR3 |
$350 1096
81403 x 1
|
| Diastrophic dysplasia | SLC26A2 |
$1,095 1527
81479 x 2
$600 1116
81479 x 1
$990 1117
81479 x 1
|
| Ectodermal dysplasia 1, hypohidrotic, X-linked | EDA |
$1,295 2031
81479 x 2
$730 2029
81479 x 1
$990 2030
81479 x 1
|
| Ehlers-Danlos syndrome, musculocontractural type, 1 | CHST14 |
$1,095 1532
81479 x 2
$570 1127
81479 x 1
$990 1128
81479 x 1
|
| Exudative vitreoretinopathy 1 | FZD4 |
$1,095 1544
81479 x 2
$590 1393
81479 x 1
$990 1394
81479 x 1
|
| Exudative vitreoretinopathy 2, X-linked | NDP |
$1,095 1545
81404 x 1
81479 x 1
$570 1395
81404 x 1
$990 1396
81479 x 1
|
| FGFR1, FGFR2 and FGFR3 related craniosynostosis panel | FGFR3, FGFR2, FGFR1 |
$645 1103
81479 x 1
81404 x 2
|
| FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel | FGFR3, FGFR2, FGFR1, TWIST1 |
$759 1104
81479 x 1
81404 x 3
|
| Frontonasal dysplasia 1 | ALX3 |
$995 1923
81479 x 2
$495 1921
81479 x 1
$990 1922
81479 x 1
|
| Frontonasal dysplasia 2 | ALX4 |
$995 1926
81479 x 2
$495 1924
81479 x 1
$990 1925
81479 x 1
|
| Frontonasal dysplasia 3 | ALX1 |
$995 1929
81479 x 2
$495 1927
81479 x 1
$990 1928
81479 x 1
|
| Frontonasal dysplasia, SIX2 related | SIX2 |
$995 2359
81479 x 2
$495 2357
81479 x 1
$990 2358
81479 x 1
|
| Geleophysic dysplasia 2 | FBN1 |
$445 1158
81479 x 1
|
| Hereditary hemorrhagic telangiectasia type 2 | ACVRL1 |
$1,195 1558
81479 x 2
$700 1406
81479 x 1
$990 1407
81479 x 1
|
| Hereditary hemorrhagic telangiectasia type 5 | GDF2 |
$995 1720
81479 x 2
$475 1718
81479 x 1
$990 1719
81479 x 1
|
| Hyperostosis corticalis generalisata (Van Buchem disease) | SOST |
$995 1807
81479 x 2
$445 1805
81479 x 1
$990 1806
81479 x 1
|
| Hyperparathyroidism, neonatal severe | CASR |
$1,195 1744
81405 x 1
81479 x 1
$690 1742
81405 x 1
$990 1743
81479 x 1
|
| Hyperphosphatemic familial tumoral calcinosis - FGF23 | FGF23 |
$995 2365
81404 x 1
81479 x 1
$492 2363
81404 x 1
$990 2364
81479 x 1
|
| Hyperphosphatemic familial tumoral calcinosis - GALNT3 | GALNT3 |
$1,195 2436
81479 x 2
$690 2366
81479 x 1
$990 2435
81479 x 1
|
| Hypocalcemia, autosomal dominant 1 | CASR |
$1,195 1747
81405 x 1
81479 x 1
$690 1745
81405 x 1
$990 1746
81479 x 1
|
| Hypocalciuric hypercalcemia, familial, type 1 | CASR |
$1,195 1753
81405 x 1
81479 x 1
$690 1751
81405 x 1
$990 1752
81479 x 1
|
| Hypophosphatasia, infantile, childhood & adult types | ALPL |
$1,195 1565
81479 x 2
$650 1168
81479 x 1
$990 1169
81479 x 1
|
| Jackson-Weiss syndrome | FGFR2 |
$445 1097
81404 x 1
|
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | SMAD4 |
$1,195 1566
81406 x 1
81405 x 1
$690 1410
81406 x 1
$990 1411
81405 x 1
|
| Klippel-Feil Syndrome 1 | GDF6 |
$995 1956
81479 x 2
$490 1954
81479 x 1
$990 1955
81479 x 1
|
| Klippel-Feil syndrome 2 | MEOX1 |
$1,095 1959
81479 x 2
$530 1957
81479 x 1
$990 1958
81479 x 1
|
| Klippel-Feil syndrome 3 | GDF3 |
$995 1962
81479 x 2
$490 1960
81479 x 1
$990 1961
81479 x 1
|
| Klippel-Feil syndrome, RIPPLY2 related | RIPPLY2 |
$1,095 2349
81479 x 2
$590 2324
81479 x 1
$990 2348
81479 x 1
|
| Known familial mutation - One mutation |
$350 1387
81403 x 1
|
|
| Known familial mutations - Four mutations |
$610 2028
81403 x 4
|
|
| Known familial mutations - Three mutations |
$545 2027
81403 x 3
|
|
| Known familial mutations - Two mutations |
$445 1388
81403 x 2
|
|
| Langer mesomelic dysplasia | SHOX |
$500 2327
81405 x 1
$680 2328
81479 x 1
$1,080 2329
81405 x 1
81479 x 1
|
| Larsen syndrome, autosomal dominant | FLNB |
$990 1172
81479 x 1
$1,365 2395
81479 x 2
$990 2394
81479 x 1
|
| Larsen syndrome, autosomal dominant Option 1 | FLNB |
$495 1173
81479 x 1
|
| Leri-Weill dyschondrosteosis | SHOX |
$500 2330
81405 x 1
$680 2331
81479 x 1
$1,080 2332
81405 x 1
81479 x 1
|
| Loeys-Dietz syndrome 1 | TGFBR1 |
$1,095 1569
81405 x 1
81479 x 1
$600 1177
81405 x 1
$990 1178
81479 x 1
|
| Loeys-Dietz syndrome 2 | TGFBR2 |
$1,095 1570
81405 x 1
81479 x 1
$600 1179
81405 x 1
$990 1180
81479 x 1
|
| Loeys-Dietz syndrome 3 | SMAD3 |
$1,195 1573
81479 x 2
$690 1182
81479 x 1
$990 1183
81479 x 1
|
| Loeys-Dietz syndrome 4 | TGFB2 |
$1,195 1574
81479 x 2
$656 1184
81479 x 1
$990 1185
81479 x 1
|
| Loeys-Dietz Syndrome 5 | TGFB3 |
$1,095 2135
81479 x 2
$599 2133
81479 x 1
$990 2134
81479 x 1
|
| Lysosomal acid lipase deficiency | LIPA |
$650 2403
81479 x 1
$680 2404
81479 x 1
$1,230 2405
81479 x 2
|
| Marfan syndrome, type II | TGFBR2 |
$1,095 1578
81405 x 1
81479 x 1
$600 1189
81405 x 1
$990 1190
81479 x 1
|
| Metaphyseal chondrodysplasia, Schmid type | COL10A1 |
$995 2073
81479 x 2
$445 1203
81479 x 1
$990 2072
81479 x 1
|
| Metaphyseal dysplasia without hypotrichosis | RMRP |
$995 1898
81479 x 2
$350 1204
81479 x 1
$990 1897
81479 x 1
|
| Muenke syndrome | FGFR3 |
$350 1098
81403 x 1
|
| Multiple self-healing squamous epithelioma | TGFBR1 |
$1,095 1592
81405 x 1
81479 x 1
$600 1590
81405 x 1
$990 1591
81479 x 1
|
| Myhre syndrome | SMAD4 |
$1,195 1416
81405 x 1
81406 x 1
$690 1414
81406 x 1
$990 1415
81405 x 1
|
| Neutropenia, severe congenital, X-linked | WAS |
$1,195 2408
81479 x 1
81406 x 1
$650 2406
81406 x 1
$990 2407
81479 x 1
|
| NKX2-5 related heart malformations | NKX2-5 |
$995 2411
81479 x 2
$490 2409
81479 x 1
$990 2410
81479 x 1
|
| Norrie disease | NDP |
$1,095 1593
81404 x 1
81479 x 1
$570 1417
81404 x 1
$990 1418
81479 x 1
|
| Oculodentodigital dysplasia | GJA1 |
$995 2414
81479 x 1
$490 2412
81479 x 1
$990 2413
81479 x 1
|
| Odontoonychodermal dysplasia | WNT10A |
$1,095 1996
81479 x 2
$530 1994
81479 x 1
$990 1995
81479 x 1
|
| Osteogenesis imperfecta, type IX | PPIB |
$1,195 1609
81479 x 2
$615 1227
81479 x 1
$990 1228
81479 x 1
|
| Osteogenesis imperfecta, type V | IFITM5 |
$995 1605
81479 x 2
$445 1219
81479 x 1
$990 1220
81479 x 1
|
| Osteogenesis imperfecta, type VI | SERPINF1 |
$1,295 1606
81479 x 2
$725 1221
81479 x 1
$990 1222
81479 x 1
|
| Osteogenesis imperfecta, type VII | CRTAP |
$1,295 1607
81479 x 2
$725 1223
81479 x 1
$990 1224
81479 x 1
|
| Osteogenesis imperfecta, type X | SERPINH1 |
$995 1610
81479 x 2
$495 1229
81479 x 1
$990 1230
81479 x 1
|
| Osteogenesis imperfecta, type XI | FKBP10 |
$1,295 1611
81479 x 2
$790 1231
81479 x 1
$990 1232
81479 x 1
|
| Osteogenesis imperfecta, type XII | SP7 |
$995 1612
81479 x 2
$445 1233
81479 x 1
$990 1234
81479 x 1
|
| Osteogenesis imperfecta, type XVII | SPARC |
$1,295 2176
81479 x 2
$750 2174
81479 x 1
$990 2175
81479 x 1
|
| Pfeiffer syndrome Option 1 | FGFR2, FGFR1 |
FGFR1 Exon 10 and FGFR2 Exons 8 & 10 only $545 1099
81479 x 1
81404 x 1
|
| Pfeiffer syndrome Option 2 | FGFR2, FGFR1 |
Reflex to remaining FGFR2 exons $978 1100
81479 x 1
|
| Platyspondylic lethal skeletal dysplasia, Torrance type | COL2A1 |
$990 1268
81479 x 1
|
| Platyspondylic lethal skeletal dysplasia, Torrance type Option 1 | COL2A1 |
$1,365 1628
81479 x 2
$410 1270
81479 x 1
$990 1269
81479 x 1
|
| Popliteal pterygium syndrome, lethal type | RIPK4 |
$770 2289
81479 x 1
$680 2290
81479 x 1
$1,350 2291
81479 x 2
|
| Progressive pseudorheumatoid arthropathy of childhood | WISP3 |
$1,095 1631
81479 x 2
$595 1276
81479 x 1
$990 1277
81479 x 1
|
| Pulmonary hypertension, primary, 2 | SMAD9 |
$1,195 2109
81479 x 2
$610 2107
81479 x 1
$990 2108
81479 x 1
|
| Pulmonary hypertension, primary, 3 | CAV1 |
$995 2112
81479 x 2
$490 2110
81479 x 1
$990 2111
81479 x 1
|
| Pulmonary hypertension, primary, 4 | KCNK3 |
$1,095 2115
81479 x 2
$510 2113
81479 x 1
$990 2114
81479 x 1
|
| Pycnodysostosis | CTSK |
$1,195 1883
81479 x 2
$690 1881
81479 x 1
$990 1882
81479 x 1
|
| Rhizomelic chondrodysplasia punctata type 1 | PEX7 |
$1,295 1999
81479 x 2
$730 1997
81479 x 1
$990 1998
81479 x 1
|
| Rickets, hypophosphatemic, autosomal dominant | FGF23 |
$995 2356
81404 x 1
81479 x 1
$492 1283
81404 x 1
$990 2355
81479 x 1
|
| Robinow syndrome, autosomal dominant 1 | WNT5A |
$1,095 1819
81479 x 2
$590 1817
81479 x 1
$990 1818
81479 x 1
|
| Robinow syndrome, autosomal recessive | ROR2 |
$1,295 1825
81479 x 2
$710 1823
81479 x 1
$990 1824
81479 x 1
|
| Saethre-Chotzen syndrome | FGFR3, TWIST1 |
$1,095 5345
81479 x 1
81403 x 1
81404 x 1
$545 1101
81479 x 1
81404 x 1
$990 1102
81403 x 1
|
| Schopf-Schulz-Passarge syndrome | WNT10A |
$1,095 2002
81479 x 2
$530 2000
81479 x 1
$990 2001
81479 x 1
|
| Sclerosteosis | SOST |
$995 1828
81479 x 2
$445 1826
81479 x 1
$990 1827
81479 x 1
|
| Short stature, idiopathic, X-linked | SHOX |
$500 2339
81405 x 1
$680 2340
81479 x 1
$1,080 2341
81405 x 1
81479 x 1
|
| Simpson-Golabi-Behmel syndrome, PIGA related | PIGA |
$1,195 2389
81479 x 2
$630 2387
81479 x 1
$990 2388
81479 x 1
|
| Spondylo-megaepiphyseal-metaphyseal dysplasia | NKX3-2 |
$995 1892
81479 x 2
$490 1890
81479 x 1
$990 1891
81479 x 1
|
| Spondylocostal dysostosis 1, autosomal recessive | DLL3 |
$1,195 1647
81479 x 2
$650 1423
81479 x 1
$990 1424
81479 x 1
|
| Spondylocostal dysostosis 2, autosomal recessive | MESP2 |
$1,095 1648
81479 x 2
$570 1425
81479 x 1
$990 1426
81479 x 1
|
| Spondylocostal dysostosis 3, autosomal recessive | LFNG |
$1,195 1649
81479 x 2
$650 1427
81479 x 1
$990 1428
81479 x 1
|
| Spondylocostal dysostosis 4, autosomal recessive | HES7 |
$1,195 1650
81479 x 2
$650 1429
81479 x 1
$990 1430
81479 x 1
|
| Spondylocostal dysostosis 5, autosomal dominant | TBX6 |
$1,195 1780
81479 x 2
$650 1778
81479 x 1
$990 1779
81479 x 1
|
| Spondylocostal dysostosis 6, autosomal recessive | RIPPLY2 |
$1,095 2351
81479 x 2
$590 2342
81479 x 1
$990 2350
81479 x 1
|
| Spondyloenchondrodysplasia with immune dysregulation | ACP5 |
$1,095 1831
81479 x 2
$560 1829
81479 x 1
$990 1830
81479 x 1
|
| Spondyloepiphyseal dysplasia tarda, X-linked | TRAPPC2 |
$995 1657
81479 x 2
$490 1318
81479 x 1
$990 1319
81479 x 1
|
| Spondylometaphyseal dysplasia with cone-rod dystrophy | PCYT1A |
$1,195 1834
81479 x 2
$650 1832
81479 x 1
$990 1833
81479 x 1
|
| Spondyloperipheral dysplasia | COL2A1 |
$990 1323
81479 x 1
|
| Spondyloperipheral dysplasia Option 1 | COL2A1 |
$1,365 1659
81479 x 2
$410 1325
81479 x 1
$990 1324
81479 x 1
|
| Thanatophoric dysplasia, type I / II | FGFR3 |
$990 1340
81479 x 1
|
| Thanatophoric dysplasia, type I / II Option 1 | FGFR3 |
$1,365 1759
81479 x 2
$570 1341
81404 x 1
$990 1758
81479 x 1
|
| Three M syndrome 3 | CCDC8 |
$1,095 1673
81479 x 2
$595 1347
81479 x 1
$990 1348
81479 x 1
|
| Thrombocytopenia 1 | WAS |
$1,195 2417
81406 x 1
81479 x 1
$650 2415
81406 x 1
$990 2416
81479 x 1
|
| Thrombocytopenia and absent radius syndrome | RBM8A |
$1,195 1674
81479 x 2
$675 1349
81479 x 1
$990 1350
81479 x 1
|
| Tooth agenesis, selective, 1 | MSX1 |
$1,195 1675
81479 x 2
$617 1351
81479 x 1
$990 1352
81479 x 1
|
| Tooth agenesis, selective, 4 | WNT10A |
$1,095 2005
81479 x 2
$530 2003
81479 x 1
$990 2004
81479 x 1
|
| Treacher Collins syndrome 2 | POLR1D |
$1,095 1678
81479 x 2
$530 1357
81479 x 1
$990 1358
81479 x 1
|
| Treacher Collins syndrome 3 | POLR1C |
$1,195 1679
81479 x 2
$630 1359
81479 x 1
$990 1360
81479 x 1
|
| Trichodentoosseus syndrome | DLX3 |
$995 1917
81479 x 2
$495 1915
81479 x 1
$990 1916
81479 x 1
|
| Wiskott-Aldrich syndrome | WAS |
$1,195 2420
81406 x 1
81479 x 1
$650 2418
81406 x 1
$990 2419
81479 x 1
|
| Witkop syndrome | MSX1 |
$1,195 1690
81479 x 2
$617 1383
81479 x 1
$990 1384
81479 x 1
|
| Wolman disease | LIPA |
$650 2421
81479 x 1
$680 2422
81479 x 1
$1,230 2423
81479 x 2
|