| 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 |
$600 1003
81479 x 1
$680 1004
81479 x 1
$1,180 1445
81479 x 2
|
| Achondroplasia / Hypochondroplasia | FGFR3 |
$990 1007
81479 x 1
|
| Achondroplasia / Hypochondroplasia Option 1 | FGFR3 |
$1,570 1757
81479 x 2
Exons 3, 5, 7, 9, 10, 13 and 15 only $725 1008
81479 x 1
$680 1756
81479 x 1
|
| Achondroplasia / Hypochondroplasia Option 2 | FGFR3 |
Reflex to remaining exons $843 1009
81479 x 1
|
| Acrofacial dysostosis 1, Nager type | SF3B4 |
$650 1988
81479 x 1
$950 1989
81479 x 1
$1,450 1990
81479 x 2
|
| Acromelic frontonasal dysostosis | ZSWIM6 |
$1,270 2006
81479 x 1
$680 2007
81479 x 1
$1,850 2008
81479 x 2
|
| Acromesomelic dysplasia, Hunter-Thompson type | GDF5 |
$590 1842
81479 x 1
$680 1843
81479 x 1
$1,170 1844
81479 x 2
|
| Acromesomelic dysplasia, Maroteaux type | NPR2 |
$1,390 1010
81479 x 1
$680 1011
81479 x 1
$1,970 1447
81479 x 2
|
| 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 |
$495 1912
81479 x 1
$680 1913
81479 x 1
$1,075 1914
81479 x 2
|
| Anauxetic dysplasia | RMRP |
$350 1019
81479 x 1
$680 1893
81479 x 1
$930 1894
81479 x 2
|
| Aortic aneurysm, familial thoracic 3 | TGFBR2 |
$600 1020
81405 x 1
$680 1021
81479 x 1
$1,180 1464
81405 x 1
81479 x 1
|
| Aortic aneurysm, familial thoracic 5 | TGFBR1 |
$600 1025
81405 x 1
$680 1026
81479 x 1
$1,180 1468
81405 x 1
81479 x 1
|
| Aortic aneurysm, familial thoracic 5 / 3 | TGFBR1, TGFBR2 |
$900 1027
81405 x 2
$750 1469
81479 x 2
$1,550 1470
81405 x 2
81479 x 2
|
| Aortic aneurysm, familial thoracic 6 | ACTA2 |
$599 1029
81405 x 1
$680 1030
81479 x 1
$1,179 1473
81405 x 1
81479 x 1
|
| Aortic aneurysm, familial thoracic 9 | MFAP5 |
$685 2009
81479 x 1
$680 2010
81479 x 1
$1,265 2011
81479 x 2
|
| 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 |
$615 1038
81479 x 1
$680 1039
81479 x 1
$1,195 1480
81479 x 2
|
| Atelosteogenesis, type I / III | FLNB |
$990 1048
81479 x 1
$1,570 2391
81479 x 2
$680 2390
81479 x 1
|
| Atelosteogenesis, type I / III Option 1 | FLNB |
Exons 2, 3, 4, 27, 28 and 29 only $495 1049
81479 x 1
|
| Atelosteogenesis, type I / III Option 2 | FLNB |
Reflex to remaining exons $1,395 1050
81479 x 1
|
| Atelosteogenesis, type II | SLC26A2 |
$600 1051
81479 x 1
$680 1052
81479 x 1
$1,180 1485
81479 x 2
|
| Barber-Say syndrome | TWIST2 |
$445 2147
81479 x 1
$680 2148
81479 x 1
$1,025 2149
81479 x 2
|
| Basal cell nevus syndrome - SUFU | SUFU |
$790 2217
81479 x 1
$680 2218
81479 x 1
$1,370 2219
81479 x 2
|
| Beare-Stevenson cutis gyrata syndrome | FGFR2 |
$445 1091
81404 x 1
|
| Bent bone dysplasia syndrome | FGFR2 |
Full gene $990 1909
81479 x 1
$1,570 1911
81479 x 2
$680 1910
81479 x 1
|
| Bent bone dysplasia syndrome Option 1 | FGFR2 |
FGFR2 Exon 11b only $350 1054
81479 x 1
|
| Bent bone dysplasia syndrome Option 2 | FGFR2 |
Reflex to remaining FGFR2 exons $1,073 1055
81479 x 1
|
| Birt-Hogg-Dube syndrome | FLCN |
$870 2223
81479 x 1
$680 2224
81479 x 1
$1,450 2225
81479 x 2
|
| Boomerang dysplasia | FLNB |
$990 1060
81479 x 1
$1,570 2393
81479 x 2
$680 2392
81479 x 1
|
| Boomerang dysplasia Option 1 | FLNB |
Exons 2, 3, 4, 27, 28 and 29 only $495 1061
81479 x 1
|
| Boomerang dysplasia Option 2 | FLNB |
Reflex to remaining exons $1,395 1062
81479 x 1
|
| Branchiooculofacial syndrome | TFAP2A |
$730 2078
81479 x 1
$680 2079
81479 x 1
$1,310 2080
81479 x 2
|
| Caffey disease | COL1A1 |
$350 1071
81479 x 1
|
| Campomelic dysplasia | SOX9 |
$780 1072
81479 x 1
$680 1073
81479 x 1
$1,360 1491
81479 x 2
|
| Cantu syndrome, KCNJ8 related | KCNJ8 |
$490 2226
81479 x 1
$680 2227
81479 x 1
$1,070 2228
81479 x 2
|
| Cartilage-hair hypoplasia | RMRP |
$350 1078
81479 x 1
$680 1895
81479 x 1
$930 1896
81479 x 2
|
| Chondrodysplasia with joint dislocations, GPAPP type | IMPAD1 |
$630 1848
81479 x 1
$680 1849
81479 x 1
$1,210 1850
81479 x 2
|
| Chondrodysplasia, Grebe type | GDF5 |
$590 1845
81479 x 1
$680 1846
81479 x 1
$1,170 1847
81479 x 2
|
| Cleidocranial dysplasia | RUNX2 |
$940 1080
81479 x 1
$680 1392
81479 x 1
$1,520 1507
81479 x 2
|
| Craniodiaphyseal dysplasia, autosomal dominant | SOST |
$445 1787
81479 x 1
$680 1788
81479 x 1
$1,025 1789
81479 x 2
|
| Craniofrontonasal syndrome | EFNB1 |
$570 1930
81479 x 1
$680 1931
81479 x 1
$1,150 1932
81479 x 2
|
| Craniosynostosis, type 1 | TWIST1 |
$445 1092
81404 x 1
$680 1093
81403 x 1
$1,025 1513
81404 x 1
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
|
| Czech dysplasia | COL2A1 |
$990 2319
81479 x 1
$1,570 2321
81479 x 2
$680 2320
81479 x 1
|
| Czech dysplasia Option 1 | COL2A1 |
Exon 13 Only $350 2322
81479 x 1
|
| Czech dysplasia Option 2 | COL2A1 |
Reflex to remaining exons $910 2323
81479 x 1
|
| Diaphanospondylodysostosis | BMPER |
$1,189 1115
81479 x 1
$680 1525
81479 x 1
$1,769 1526
81479 x 2
|
| Diastrophic dysplasia | SLC26A2 |
$600 1116
81479 x 1
$680 1117
81479 x 1
$1,180 1527
81479 x 2
|
| Ectodermal dysplasia 1, hypohidrotic, X-linked | EDA |
$730 2029
81479 x 1
$680 2030
81479 x 1
$1,330 2031
81479 x 2
|
| Ehlers-Danlos syndrome, musculocontractural type | CHST14 |
$570 1127
81479 x 1
$680 1128
81479 x 1
$1,150 1532
81479 x 2
|
| Ehlers-Danlos syndrome, type VIIA / VIIB | COL1A2, COL1A1 |
$570 1138
81479 x 2
$750 1139
81479 x 2
$1,220 1538
81479 x 4
|
| Exostoses, multiple, type I | EXT1 |
$760 1142
81479 x 1
$680 1143
81479 x 1
$1,340 1540
81479 x 2
|
| Exostoses, multiple, type I & II | EXT2, EXT1 |
$1,328 1146
81479 x 2
$750 1542
81479 x 2
$1,978 1543
81479 x 4
|
| Exostoses, multiple, type II | EXT2 |
$896 1144
81479 x 1
$680 1145
81479 x 1
$1,476 1541
81479 x 2
|
| Exudative vitreoretinopathy 1 | FZD4 |
$590 1393
81479 x 1
$680 1394
81479 x 1
$1,170 1544
81479 x 2
|
| Exudative vitreoretinopathy 2, X-linked | NDP |
$570 1395
81404 x 1
$680 1396
81479 x 1
$1,150 1545
81404 x 1
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
|
| Fibrodysplasia ossificans progressiva | ACVR1 |
$690 1796
81479 x 1
$680 1797
81479 x 1
$1,270 1798
81479 x 2
|
| Fibular hypoplasia and complex brachydactyly | GDF5 |
$590 1857
81479 x 1
$680 1858
81479 x 1
$1,170 1859
81479 x 2
|
| Focal dermal hypoplasia | PORCN |
$1,100 1153
81479 x 1
$680 1154
81479 x 1
$1,680 1552
81479 x 2
|
| Frontonasal dysplasia 1 | ALX3 |
$495 1921
81479 x 1
$680 1922
81479 x 1
$1,075 1923
81479 x 2
|
| Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome | ALX1, ALX3, ALX4, EFNB1 |
$995 1918
81479 x 4
$850 1919
81479 x 4
$1,745 1920
81479 x 8
|
| Frontonasal dysplasia 2 | ALX4 |
$495 1924
81479 x 1
$680 1925
81479 x 1
$1,075 1926
81479 x 2
|
| Frontonasal dysplasia 3 | ALX1 |
$495 1927
81479 x 1
$680 1928
81479 x 1
$1,075 1929
81479 x 2
|
| Frontonasal dysplasia, SIX2 related | SIX2 |
$495 2357
81479 x 1
$680 2358
81479 x 1
$1,075 2359
81479 x 2
|
| Geleophysic dysplasia 1 | ADAMTSL2 |
$1,490 1156
81479 x 1
$680 1157
81479 x 1
$2,070 1553
81479 x 2
|
| Geleophysic dysplasia 2 | FBN1 |
$445 1158
81479 x 1
|
| Genitopatellar syndrome | KAT6B |
$1,290 1799
81479 x 1
$680 1800
81479 x 1
$1,870 1801
81479 x 2
|
| Glass syndrome | SATB2 |
$770 2153
81479 x 1
$680 2154
81479 x 1
$1,350 2155
81479 x 2
|
| Gracile bone dysplasia | FAM111A |
$590 1802
81479 x 1
$680 1803
81479 x 1
$1,170 1804
81479 x 2
|
| Hajdu-Cheney syndrome | NOTCH2 |
$990 1400
81479 x 1
|
| Hajdu-Cheney syndrome Option 1 | NOTCH2 |
$1,570 1556
81479 x 2
Exon 34 only $350 1402
81479 x 1
$680 1401
81479 x 1
|
| Hajdu-Cheney syndrome Option 2 | NOTCH2 |
Reflex to remaining exons $1,240 1403
81479 x 1
|
| Hereditary hemorrhagic telangiectasia type 2 | ACVRL1 |
$700 1406
81479 x 1
$680 1407
81479 x 1
$1,280 1558
81479 x 2
|
| Hereditary hemorrhagic telangiectasia type 5 | GDF2 |
$475 1718
81479 x 1
$680 1719
81479 x 1
$1,055 1720
81479 x 2
|
| Hyperostosis corticalis generalisata (Van Buchem disease) | SOST |
$445 1805
81479 x 1
$680 1806
81479 x 1
$1,025 1807
81479 x 2
|
| Hyperparathyroidism, neonatal severe | CASR |
$690 1742
81405 x 1
$680 1743
81479 x 1
$1,270 1744
81405 x 1
81479 x 1
|
| Hyperphosphatemic familial tumoral calcinosis - FGF23 | FGF23 |
$492 2363
81404 x 1
$680 2364
81479 x 1
$1,072 2365
81404 x 1
81479 x 1
|
| Hyperphosphatemic familial tumoral calcinosis - GALNT3 | GALNT3 |
$690 2366
81479 x 1
$680 2435
81479 x 1
$1,270 2436
81479 x 2
|
| Hypocalcemia, autosomal dominant 1 | CASR |
$690 1745
81405 x 1
$680 1746
81479 x 1
$1,270 1747
81405 x 1
81479 x 1
|
| Hypocalcemia, autosomal dominant 1, with Bartter syndrome | CASR |
$690 1748
81405 x 1
$680 1749
81479 x 1
$1,270 1750
81405 x 1
81479 x 1
|
| Hypocalciuric hypercalcemia, familial, type 1 | CASR |
$690 1751
81405 x 1
$680 1752
81479 x 1
$1,270 1753
81405 x 1
81479 x 1
|
| Hypophosphatasia, infantile, childhood & adult types | ALPL |
$650 1168
81479 x 1
$680 1169
81479 x 1
$1,230 1565
81479 x 2
|
| Insulin-like growth factor I deficiency | IGF1 |
$595 2087
81479 x 1
$680 2088
81479 x 1
$1,175 2089
81479 x 2
|
| Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to | IGF1, IGF1R |
$1,390 2093
81479 x 2
$750 2094
81479 x 2
$2,070 2095
81479 x 4
|
| Insulin-like growth factor I, resistance to | IGF1R |
$1,145 2090
81479 x 1
$680 2091
81479 x 1
$1,725 2092
81479 x 2
|
| Jackson-Weiss syndrome | FGFR2 |
$445 1097
81404 x 1
|
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | SMAD4 |
$690 1410
81406 x 1
$680 1411
81405 x 1
$1,270 1566
81406 x 1
81405 x 1
|
| KBG syndrome | ANKRD11 |
$1,190 1966
81405 x 1
$680 1967
81479 x 1
$1,770 1968
81479 x 1
81405 x 1
|
| Kenny-Caffey syndrome, type 1 | TBCE |
$1,210 1903
81479 x 1
$680 1904
81479 x 1
$1,790 1905
81479 x 2
|
| Kenny-Caffey syndrome, type 1 / 2 | FAM111A, TBCE |
$1,490 1906
81479 x 2
$750 1907
81479 x 2
$2,140 1908
81479 x 4
|
| Kenny-Caffey syndrome, type 2 | FAM111A |
$590 1808
81479 x 1
$680 1809
81479 x 1
$1,170 1810
81479 x 2
|
| Klippel-Feil Syndrome 1 | GDF6 |
$490 1954
81479 x 1
$680 1955
81479 x 1
$1,070 1956
81479 x 2
|
| Klippel-Feil syndrome 2 | MEOX1 |
$530 1957
81479 x 1
$680 1958
81479 x 1
$1,110 1959
81479 x 2
|
| Klippel-Feil syndrome 3 | GDF3 |
$490 1960
81479 x 1
$680 1961
81479 x 1
$1,070 1962
81479 x 2
|
| Klippel-Feil syndrome, RIPPLY2 related | RIPPLY2 |
$590 2324
81479 x 1
$680 2348
81479 x 1
$1,170 2349
81479 x 2
|
| Known familial mutation - One mutation |
$350 1387
81479 x 1
|
|
| Known familial mutations - Four mutations |
$610 2028
81479 x 4
|
|
| Known familial mutations - Three mutations |
$545 2027
81479 x 3
|
|
| Known familial mutations - Two mutations |
$445 1388
81479 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
$1,570 2395
81479 x 2
$680 2394
81479 x 1
|
| Larsen syndrome, autosomal dominant Option 1 | FLNB |
Exons 2, 3, 4, 27, 28 and 29 only $495 1173
81479 x 1
|
| Larsen syndrome, autosomal dominant Option 2 | FLNB |
Reflex to remaining exons $1,395 1174
81479 x 1
|
| Lateral meningocele syndrome | NOTCH3 |
$990 2096
81479 x 1
$1,570 2098
81479 x 2
$680 2097
81479 x 1
|
| Lateral meningocele syndrome Option 1 | NOTCH3 |
Exon 33 $350 2099
81479 x 1
|
| Lateral meningocele syndrome Option 2 | NOTCH3 |
Reflex to remaining exons $1,350 2100
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 |
$600 1177
81405 x 1
$680 1178
81479 x 1
$1,180 1569
81405 x 1
81479 x 1
|
| Loeys-Dietz syndrome 1 / 2 | TGFBR1, TGFBR2 |
$900 1181
81405 x 2
$750 1571
81479 x 2
$1,550 1572
81405 x 2
81479 x 2
|
| Loeys-Dietz syndrome 2 | TGFBR2 |
$600 1179
81405 x 1
$680 1180
81479 x 1
$1,180 1570
81405 x 1
81479 x 1
|
| Loeys-Dietz syndrome 3 | SMAD3 |
$690 1182
81479 x 1
$680 1183
81479 x 1
$1,270 1573
81479 x 2
|
| Loeys-Dietz syndrome 4 | TGFB2 |
$656 1184
81479 x 1
$680 1185
81479 x 1
$1,236 1574
81479 x 2
|
| Loeys-Dietz Syndrome 5 | TGFB3 |
$599 2133
81479 x 1
$680 2134
81479 x 1
$1,179 2135
81479 x 2
|
| 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 |
$600 1189
81405 x 1
$680 1190
81479 x 1
$1,180 1578
81405 x 1
81479 x 1
|
| Metaphyseal chondrodysplasia, Schmid type | COL10A1 |
$445 1203
81479 x 1
$680 2072
81479 x 1
$1,025 2073
81479 x 2
|
| Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | RUNX2 |
$940 1412
81479 x 1
$680 1413
81479 x 1
$1,520 1589
81479 x 2
|
| Metaphyseal dysplasia without hypotrichosis | RMRP |
$350 1204
81479 x 1
$680 1897
81479 x 1
$930 1898
81479 x 2
|
| Microcephaly-capillary malformation syndrome | STAMBP |
$750 2162
81479 x 1
$680 2163
81479 x 1
$1,330 2164
81479 x 2
|
| Mowat-Wilson syndrome | ZEB2 |
$770 2336
81405 x 1
$680 2337
81404 x 1
$1,350 2338
81405 x 1
81404 x 1
|
| Muenke syndrome | FGFR3 |
$350 1098
81403 x 1
|
| Multiple epiphyseal dysplasia | COMP |
Full gene $990 1206
81479 x 1
|
| Multiple epiphyseal dysplasia Option 1 | COMP |
$1,570 2075
81479 x 2
Exons 8 to 19 only $790 1207
81479 x 1
$680 2074
81479 x 1
|
| Multiple epiphyseal dysplasia Option 2 | COMP |
Reflex to remaining $500 1208
81479 x 1
|
| Multiple pterygium syndrome, Escobar variant | CHRNG |
$750 2277
81479 x 1
$680 2278
81479 x 1
$1,330 2279
81479 x 2
|
| Multiple pterygium syndrome, lethal type | CHRNA1, CHRND, CHRNG |
$1,390 2274
81479 x 3
$800 2275
81479 x 3
$2,090 2276
81479 x 6
|
| Multiple pterygium syndrome, lethal type - CHRNA1 | CHRNA1 |
$750 2265
81479 x 1
$680 2266
81479 x 1
$1,330 2267
81479 x 2
|
| Multiple pterygium syndrome, lethal type - CHRND | CHRND |
$750 2268
81479 x 1
$680 2269
81479 x 1
$1,330 2270
81479 x 2
|
| Multiple pterygium syndrome, lethal type - CHRNG | CHRNG |
$750 2271
81479 x 1
$680 2272
81479 x 1
$1,330 2273
81479 x 2
|
| Multiple self-healing squamous epithelioma | TGFBR1 |
$600 1590
81405 x 1
$680 1591
81479 x 1
$1,180 1592
81405 x 1
81479 x 1
|
| Myhre syndrome Option 1 | SMAD4 |
Full gene $790 1414
81406 x 1
|
| Myhre syndrome Option 2 | SMAD4 |
Exon 12 only $350 1415
81479 x 1
|
| Myhre syndrome Option 3 | SMAD4 |
Reflex to remaining exons $670 1416
81479 x 1
|
| Neu-Laxova syndrome 1 | PHGDH |
$790 2165
81479 x 1
$680 2166
81479 x 1
$1,370 2167
81479 x 2
|
| Neu-Laxova syndrome 1 / 2 | PHGDH, PSAT1 |
$1,140 2171
81479 x 2
$750 2172
81479 x 2
$1,790 2173
81479 x 4
|
| Neu-Laxova syndrome 2 | PSAT1 |
$750 2168
81479 x 1
$680 2169
81479 x 1
$1,330 2170
81479 x 2
|
| Neutropenia, severe congenital, X-linked | WAS |
$650 2406
81406 x 1
$680 2407
81479 x 1
$1,230 2408
81479 x 1
81406 x 1
|
| NKX2-5 related heart malformations | NKX2-5 |
$490 2409
81479 x 1
$680 2410
81479 x 1
$1,070 2411
81479 x 2
|
| Norrie disease | NDP |
$570 1417
81404 x 1
$680 1418
81479 x 1
$1,150 1593
81404 x 1
81479 x 1
|
| Oculodentodigital dysplasia | GJA1 |
$490 2412
81479 x 1
$680 2413
81479 x 1
$1,070 2414
81479 x 1
|
| Odontoonychodermal dysplasia | WNT10A |
$530 1994
81479 x 1
$680 1995
81479 x 1
$1,110 1996
81479 x 2
|
| Ohdo syndrome, SBBYS variant | KAT6B |
$1,290 1811
81479 x 1
$680 1812
81479 x 1
$1,870 1813
81479 x 2
|
| Omodysplasia 1 | GPC6 |
$1,120 1213
81479 x 1
$680 1214
81479 x 1
$1,700 1595
81479 x 2
|
| Osteogenesis imperfecta, type IX | PPIB |
$615 1227
81479 x 1
$680 1228
81479 x 1
$1,195 1609
81479 x 2
|
| Osteogenesis imperfecta, type V | IFITM5 |
$445 1219
81479 x 1
$680 1220
81479 x 1
$1,025 1605
81479 x 2
|
| Osteogenesis imperfecta, type VI | SERPINF1 |
$725 1221
81479 x 1
$680 1222
81479 x 1
$1,305 1606
81479 x 2
|
| Osteogenesis imperfecta, type VII | CRTAP |
$725 1223
81479 x 1
$680 1224
81479 x 1
$1,305 1607
81479 x 2
|
| Osteogenesis imperfecta, type X | SERPINH1 |
$495 1229
81479 x 1
$680 1230
81479 x 1
$1,075 1610
81479 x 2
|
| Osteogenesis imperfecta, type XI | FKBP10 |
$790 1231
81479 x 1
$680 1232
81479 x 1
$1,370 1611
81479 x 2
|
| Osteogenesis imperfecta, type XII | SP7 |
$445 1233
81479 x 1
$680 1234
81479 x 1
$1,025 1612
81479 x 2
|
| Osteogenesis imperfecta, type XVII | SPARC |
$750 2174
81479 x 1
$680 2175
81479 x 1
$1,330 2176
81479 x 2
|
| 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
|
| Phosphoglycerate dehydrogenase deficiency | PHGDH |
$790 2177
81479 x 1
$680 2178
81479 x 1
$1,370 2179
81479 x 2
|
| Phosphoserine aminotransferase deficiency | PSAT1 |
$750 2180
81479 x 1
$680 2181
81479 x 1
$1,330 2182
81479 x 2
|
| Platyspondylic lethal skeletal dysplasia, Torrance type | COL2A1 |
$990 1268
81479 x 1
|
| Platyspondylic lethal skeletal dysplasia, Torrance type Option 1 | COL2A1 |
$1,570 1628
81479 x 2
Exons 51, 52, 53 and 54 only $410 1270
81479 x 1
$680 1269
81479 x 1
|
| Platyspondylic lethal skeletal dysplasia, Torrance type Option 2 | COL2A1 |
Reflex to remaining exons $850 1271
81479 x 1
|
| Pneumothorax, primary spontaneous | FLCN |
$870 2283
81479 x 1
$680 2284
81479 x 1
$1,450 2285
81479 x 2
|
| Popliteal pterygium syndrome | IRF6 |
$680 2286
81479 x 1
$680 2287
81479 x 1
$1,260 2288
81479 x 2
|
| Popliteal pterygium syndrome, lethal type | RIPK4 |
$770 2289
81479 x 1
$680 2290
81479 x 1
$1,350 2291
81479 x 2
|
| Postaxial acrofacial dysostosis | DHODH |
$750 2192
81479 x 1
$680 2193
81479 x 1
$1,330 2194
81479 x 2
|
| Progressive pseudorheumatoid arthropathy of childhood | WISP3 |
$830 1276
81479 x 1
$680 1277
81479 x 1
$1,410 1631
81479 x 2
|
| Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | FLVCR2 |
$1,017 1278
81479 x 1
$680 1279
81479 x 1
$1,597 1632
81479 x 2
|
| Pseudoachondroplasia | COMP |
$990 1280
81479 x 1
|
| Pseudoachondroplasia Option 1 | COMP |
$1,570 2077
81479 x 2
Exons 8 to 19 only $790 1281
81479 x 1
$680 2076
81479 x 1
|
| Pseudoachondroplasia Option 2 | COMP |
Reflex to remaining exons $500 1282
81479 x 1
|
| Pulmonary hypertension, primary, 2 | SMAD9 |
$610 2107
81479 x 1
$680 2108
81479 x 1
$1,190 2109
81479 x 2
|
| Pulmonary hypertension, primary, 3 | CAV1 |
$490 2110
81479 x 1
$680 2111
81479 x 1
$1,070 2112
81479 x 2
|
| Pulmonary hypertension, primary, 4 | KCNK3 |
$510 2113
81479 x 1
$680 2114
81479 x 1
$1,090 2115
81479 x 2
|
| Pycnodysostosis | CTSK |
$690 1881
81479 x 1
$680 1882
81479 x 1
$1,270 1883
81479 x 2
|
| Rhizomelic chondrodysplasia punctata type 1 | PEX7 |
$730 1997
81479 x 1
$680 1998
81479 x 1
$1,310 1999
81479 x 2
|
| Rickets, hypophosphatemic, autosomal dominant | FGF23 |
$492 1283
81404 x 1
$680 2355
81479 x 1
$1,072 2356
81404 x 1
81479 x 1
|
| Roberts syndrome | ESCO2 |
$890 1884
81479 x 1
$680 1885
81479 x 1
$1,470 1886
81479 x 2
|
| Robinow syndrome, autosomal dominant 1 | WNT5A |
$590 1817
81479 x 1
$680 1818
81479 x 1
$1,170 1819
81479 x 2
|
| Robinow syndrome, autosomal dominant 2 Option 1 | DVL1 |
Full gene $890 2119
81479 x 1
|
| Robinow syndrome, autosomal dominant 2 Option 2 | DVL1 |
Exon 14 only $350 2122
81479 x 1
|
| Robinow syndrome, autosomal dominant 2 Option 3 | DVL1 |
Reflex to remaining exons $750 2123
81479 x 1
|
| Robinow syndrome, autosomal dominant 2 | DVL1 |
$680 2120
81479 x 1
$1,470 2121
81479 x 2
|
| Robinow syndrome, autosomal recessive | ROR2 |
$710 1823
81479 x 1
$680 1824
81479 x 1
$1,290 1825
81479 x 2
|
| Saethre-Chotzen syndrome | FGFR3, TWIST1 |
$545 1101
81479 x 1
81404 x 1
$680 1102
81403 x 1
|
| SC phocomelia syndrome | ESCO2 |
$890 1887
81479 x 1
$680 1888
81479 x 1
$1,470 1889
81479 x 2
|
| Schopf-Schulz-Passarge syndrome | WNT10A |
$530 2000
81479 x 1
$680 2001
81479 x 1
$1,110 2002
81479 x 2
|
| Sclerosteosis | SOST |
$445 1826
81479 x 1
$680 1827
81479 x 1
$1,025 1828
81479 x 2
|
| Severe achondroplasia with developmental delay and acanthosis nigricans | FGFR3 |
$350 1295
81403 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 |
$630 2387
81479 x 1
$680 2388
81479 x 1
$1,210 2389
81479 x 2
|
| Smith-Lemli-Opitz syndrome | DHCR7 |
$695 2439
81405 x 1
$680 2443
81479 x 1
$1,275 2444
81405 x 1
81479 x 1
|
| Snyder-Robinson mental retardation syndrome | SMS |
$730 2440
81479 x 1
$680 2441
81479 x 1
$1,310 2442
81479 x 2
|
| Spondylo-megaepiphyseal-metaphyseal dysplasia | NKX3-2 |
$490 1890
81479 x 1
$680 1891
81479 x 1
$1,070 1892
81479 x 2
|
| Spondylocostal dysostosis 1, autosomal recessive | DLL3 |
$650 1423
81479 x 1
$680 1424
81479 x 1
$1,230 1647
81479 x 2
|
| Spondylocostal dysostosis 2, autosomal recessive | MESP2 |
$570 1425
81479 x 1
$680 1426
81479 x 1
$1,150 1648
81479 x 2
|
| Spondylocostal dysostosis 3, autosomal recessive | LFNG |
$650 1427
81479 x 1
$680 1428
81479 x 1
$1,230 1649
81479 x 2
|
| Spondylocostal dysostosis 4, autosomal recessive | HES7 |
$650 1429
81479 x 1
$680 1430
81479 x 1
$1,230 1650
81479 x 2
|
| Spondylocostal dysostosis 5, autosomal dominant | TBX6 |
$650 1778
81479 x 1
$680 1779
81479 x 1
$1,230 1780
81479 x 2
|
| Spondylocostal dysostosis 6, autosomal recessive | RIPPLY2 |
$590 2342
81479 x 1
$680 2350
81479 x 1
$1,170 2351
81479 x 2
|
| Spondyloenchondrodysplasia with immune dysregulation | ACP5 |
$560 1829
81479 x 1
$680 1830
81479 x 1
$1,140 1831
81479 x 2
|
| Spondyloepimetaphyseal dysplasia with joint laxity type 2 | KIF22 |
$990 1432
81479 x 1
$1,570 1655
81479 x 2
|
| Spondyloepimetaphyseal dysplasia with joint laxity type 2 Option 1 | KIF22 |
Exon 4 only $350 1434
81479 x 1
$680 1433
81479 x 1
|
| Spondyloepimetaphyseal dysplasia with joint laxity type 2 Option 2 | KIF22 |
Reflex to remaining exons $850 1435
81479 x 1
|
| Spondylometaphyseal dysplasia with cone-rod dystrophy | PCYT1A |
$650 1832
81479 x 1
$680 1833
81479 x 1
$1,230 1834
81479 x 2
|
| Spondyloocular syndrome | XYLT2 |
$790 2195
81479 x 1
$680 2196
81479 x 1
$1,370 2197
81479 x 2
|
| Spondyloperipheral dysplasia | COL2A1 |
$990 1323
81479 x 1
|
| Spondyloperipheral dysplasia Option 1 | COL2A1 |
$1,570 1659
81479 x 2
Exons 51, 52, 53 and 54 only $410 1325
81479 x 1
$680 1324
81479 x 1
|
| Spondyloperipheral dysplasia Option 2 | COL2A1 |
Reflex to remaining exons $850 1326
81479 x 1
|
| Steel syndrome | COL27A1 |
$990 2430
81479 x 1
$1,570 2432
81479 x 2
$350 2396
81479 x 1
$680 2431
81479 x 1
|
| Stiff skin syndrome Option 1 | FBN1 |
Exons 37 and 38 only $445 1441
81479 x 1
|
| Stiff skin syndrome Option 2 | FBN1 |
Reflex to remaining exons $1,440 1442
81479 x 1
|
| Thanatophoric dysplasia, type I / II | FGFR3 |
$990 1340
81479 x 1
|
| Thanatophoric dysplasia, type I / II Option 1 | FGFR3 |
$1,570 1759
81479 x 2
Exons 7, 10, 15 and 19 only $570 1341
81404 x 1
$680 1758
81479 x 1
|
| Thanatophoric dysplasia, type I / II Option 2 | FGFR3 |
Reflex to remaining exons $998 1342
81479 x 1
|
| Three M syndrome 3 | CCDC8 |
$595 1347
81479 x 1
$680 1348
81479 x 1
$1,175 1673
81479 x 2
|
| Thrombocytopenia 1 | WAS |
$650 2415
81406 x 1
$680 2416
81479 x 1
$1,230 2417
81406 x 1
81479 x 1
|
| Thrombocytopenia and absent radius syndrome | RBM8A |
$675 1349
81479 x 1
$680 1350
81479 x 1
$1,255 1674
81479 x 2
|
| Tooth agenesis, selective 4 | WNT10A |
$530 2003
81479 x 1
$680 2004
81479 x 1
$1,110 2005
81479 x 2
|
| Tooth agenesis, selective, 1 | MSX1 |
$617 1351
81479 x 1
$680 1352
81479 x 1
$1,197 1675
81479 x 2
|
| Torg-Winchester syndrome | MMP2 |
$990 1353
81479 x 1
$680 1354
81479 x 1
$1,570 1676
81479 x 2
|
| Treacher Collins syndrome 2 | POLR1D |
$530 1357
81479 x 1
$680 1358
81479 x 1
$1,110 1678
81479 x 2
|
| Treacher Collins syndrome 3 | POLR1C |
$630 1359
81479 x 1
$680 1360
81479 x 1
$1,210 1679
81479 x 2
|
| Trichodentoosseus syndrome | DLX3 |
$495 1915
81479 x 1
$680 1916
81479 x 1
$1,075 1917
81479 x 2
|
| Trichorhinophalangeal syndrome, type I / III | TRPS1 |
$1,090 1361
81479 x 1
$680 1362
81479 x 1
$1,670 1680
81479 x 2
|
| Van der Woude syndrome 1 | IRF6 |
$680 2307
81479 x 1
$680 2308
81479 x 1
$1,260 2309
81479 x 2
|
| Van der Woude syndrome 1 / 2 | GRHL3, IRF6 |
$1,100 2313
81479 x 2
$750 2314
81479 x 2
$1,750 2315
81479 x 4
|
| Van der Woude syndrome 2 | GRHL3 |
$870 2310
81479 x 1
$680 2311
81479 x 1
$1,450 2312
81479 x 2
|
| Wiskott-Aldrich syndrome | WAS |
$650 2418
81406 x 1
$680 2419
81479 x 1
$1,230 2420
81406 x 1
81479 x 1
|
| Witkop syndrome | MSX1 |
$617 1383
81479 x 1
$680 1384
81479 x 1
$1,197 1690
81479 x 2
|
| Wolman disease | LIPA |
$650 2421
81479 x 1
$680 2422
81479 x 1
$1,230 2423
81479 x 2
|
| Zimmermann-Laband syndrome 1 | KCNH1 |
$790 2198
81479 x 1
$680 2199
81479 x 1
$1,370 2200
81479 x 2
|
| Zimmermann-Laband syndrome 1 / 2 | ATP6V1B2, KCNH1 |
$1,290 2204
81479 x 2
$750 2205
81479 x 2
$1,940 2206
81479 x 4
|
| Zimmermann-Laband syndrome 2 | ATP6V1B2 |
$890 2201
81479 x 1
$680 2202
81479 x 1
$1,470 2203
81479 x 2
|