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
$1,500
5069
81408 x 1
81479 x 1
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, AEBP1, B3GALT6, B4GALT7, CHST14, DSE, FKBP14, ATP7A, COL1A2, PLOD1, PRDM5, SLC39A13, ZNF469
$1,100
5070
81479 x 1
81408 x 1
,
$990
5071
81479 x 1
,
$1,300
5072
81479 x 1
81408 x 1
Ehlers-Danlos syndrome, arthrochalasia type NGS panel COL1A2, COL1A1
$1,000
1138
81408 x 1
,
$990
1139
81479 x 1
,
$1,200
1538
81408 x 1
81479 x 1
Ehlers-Danlos syndrome, classic type NGS panel COL5A2, COL5A1
$1,000
1134
81479 x 1
,
$990
1535
81479 x 1
,
$1,200
1536
81479 x 1
Ehlers-Danlos syndrome, classic type, 2 COL5A2
$900
1132
81479 x 1
,
$900
1133
81479 x 1
,
$1,100
1534
81479 x 1
Ehlers-Danlos syndrome, classic type, I COL5A1
$900
1130
81479 x 1
,
$900
1131
81479 x 1
,
$1,100
1533
81479 x 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 1 PLOD1
$900
1137
81479 x 1
,
$900
2433
81479 x 1
,
$1,100
2434
81479 x 1
Ehlers-Danlos syndrome, musculocontractural type, 1 CHST14
$900
1127
81479 x 1
,
$900
1128
81479 x 1
,
$1,100
1532
81479 x 1
Ehlers-Danlos syndrome, periodontal type NGS panel C1R, C1S
$1,100
5250
81479 x 1
,
$990
5251
81479 x 1
,
$1,300
5252
81479 x 1
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel B3GALT6, B4GALT7, SLC39A13
$1,100
2035
81479 x 1
,
$990
2036
81479 x 1
,
$1,300
2037
81479 x 1
Ehlers-Danlos syndrome, spondylodysplastic type, 1 B4GALT7
$900
1951
81479 x 1
,
$900
1952
81479 x 1
,
$1,100
1953
81479 x 1
Ehlers-Danlos syndrome, spondylodysplastic type, 2 B3GALT6
$900
2032
81479 x 1
,
$900
5271
81479 x 1
,
$1,100
5272
81479 x 1
Ehlers-Danlos syndrome, spondylodysplastic type, 3 SLC39A13
$900
1129
81479 x 1
,
$900
1754
81479 x 1
,
$1,100
1755
81479 x 1
Ehlers-Danlos syndrome, vascular type COL3A1
$900
1135
81479 x 1
,
$900
1136
81479 x 1
,
$1,100
1537
81479 x 1
Eiken syndrome PTH1R
$900
2038
81479 x 1
,
$900
2039
81479 x 1
,
$1,100
2040
81479 x 1
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel EVC2, EVC
$1,100
1140
81479 x 1
,
$990
1141
81479 x 1
,
$1,300
1539
81479 x 1
Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
$900
1790
81479 x 1
,
$900
1791
81479 x 1
,
$1,100
1792
81479 x 1
Epidermolysis bullosa NGS panel CAST, CDSN, CHST8, COL17A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5, COL7A1
$1,300
5073
81479 x 1
81406 x 1
,
$990
5074
81479 x 1
,
$1,500
5075
81479 x 1
81406 x 1
Erythrokeratodermias and related disorders NGS panel DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR
$1,100
5373
81406 x 1
81479 x 1
,
$990
5374
81479 x 1
,
$1,300
5375
81406 x 1
81479 x 1
Exostoses, multiple, type I EXT1
$900
1142
81479 x 1
,
$900
1143
81479 x 1
,
$1,100
1540
81479 x 1
Exostoses, multiple, type II EXT2
$900
1144
81479 x 1
,
$900
1145
81479 x 1
,
$1,100
1541
81479 x 1
Exudative vitreoretinopathy 1 FZD4
$590
1393
81479 x 1
,
$900
1394
81479 x 1
,
$1,100
1544
81479 x 1
Exudative vitreoretinopathy 2, X-linked NDP
$570
1395
81404 x 1
,
$900
1396
81479 x 1
,
$1,100
1545
81404 x 1
81479 x 1
Exudative vitreoretinopathy 4 LRP5
$900
1147
81406 x 1
,
$900
1148
81479 x 1
,
$1,100
1546
81406 x 1
81479 x 1
Exudative vitreoretinopathy 5 TSPAN12
$900
1397
81479 x 1
,
$900
1398
81479 x 1
,
$1,100
1547
81479 x 1
Exudative vitreoretinopathy NGS panel CAPN5, KIF11, ZNF408, FZD4, LRP5, NDP, TSPAN12
$1,100
1399
81479 x 1
81404 x 1
81406 x 1
,
$990
1548
81479 x 1
,
$1,300
1549
81479 x 1
81404 x 1
81406 x 1
Fabry disease GLA
$900
2463
81405 x 1
,
$900
2464
81479 x 1
,
$1,100
2465
81405 x 1
81479 x 1
Failure of tooth eruption, primary PTH1R
$900
2041
81479 x 1
,
$900
2042
81479 x 1
,
$1,100
2043
81479 x 1
FGFR2 related craniosynostosis FGFR2
$900
1105
81479 x 1
,
$900
1106
81479 x 1
,
$1,100
1514
81479 x 1
Fibrillinopathy NGS panel FBN1, FBN2, CBS
$1,100
5003
81406 x 1
81408 x 1
81479 x 1
,
$990
5012
81479 x 1
,
$1,300
5013
81406 x 1
81408 x 1
81479 x 1
Fibrochondrogenesis 1 COL11A1
$900
1149
81479 x 1
,
$900
1150
81479 x 1
,
$1,100
1550
81479 x 1
Fibrochondrogenesis 2 COL11A2
$900
1151
81479 x 1
,
$900
1152
81479 x 1
,
$1,100
1551
81479 x 1
Fibrochondrogenesis NGS panel COL11A1, COL11A2
$1,100
1694
81479 x 1
,
$990
1695
81479 x 1
,
$1,300
1696
81479 x 1
Fibrodysplasia ossificans progressiva ACVR1
$900
1796
81479 x 1
,
$900
1797
81479 x 1
,
$1,100
1798
81479 x 1
Fibular hypoplasia and complex brachydactyly GDF5
$900
1857
81479 x 1
,
$900
1858
81479 x 1
,
$1,100
1859
81479 x 1
Focal dermal hypoplasia PORCN
$900
1153
81479 x 1
,
$900
1154
81479 x 1
,
$1,100
1552
81479 x 1
Frontometaphyseal dysplasia FLNA
$900
1155
81479 x 1
,
$900
5277
81479 x 1
,
$1,100
5278
81479 x 1
Frontometaphyseal dysplasia NGS panel MAP3K7, TAB2, FLNA
$1,100
5212
81479 x 1
,
$990
5213
81479 x 1
,
$1,300
5214
81479 x 1
Frontonasal dysplasia 1 ALX3
$495
1921
81479 x 1
,
$900
1922
81479 x 1
,
$1,100
1923
81479 x 1
Frontonasal dysplasia 2 ALX4
$495
1924
81479 x 1
,
$900
1925
81479 x 1
,
$1,100
1926
81479 x 1
Frontonasal dysplasia 3 ALX1
$495
1927
81479 x 1
,
$900
1928
81479 x 1
,
$1,100
1929
81479 x 1
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel ALX1, ALX3, ALX4, EFNB1, SIX2
$1,100
1918
81479 x 1
,
$990
1919
81479 x 1
,
$1,300
1920
81479 x 1
Frontonasal dysplasia, SIX2 related SIX2
$495
2357
81479 x 1
,
$900
2358
81479 x 1
,
$1,100
2359
81479 x 1
Geleophysic dysplasia 1 ADAMTSL2
$900
1156
81479 x 1
,
$900
1157
81479 x 1
,
$1,100
1553
81479 x 1
Genitopatellar syndrome KAT6B
$900
1799
81479 x 1
,
$900
1800
81479 x 1
,
$1,100
1801
81479 x 1
Glass syndrome SATB2
$900
2153
81479 x 1
,
$900
2154
81479 x 1
,
$1,100
2155
81479 x 1
Glomuvenous malformations GLMN
$900
1159
81479 x 1
,
$900
1160
81479 x 1
,
$1,100
1554
81479 x 1
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel GLMN, TEK
$1,100
1736
81479 x 1
,
$990
1737
81479 x 1
,
$1,300
1738
81479 x 1
Gnathodiaphyseal dysplasia ANO5
$900
2156
81406 x 1
,
$900
2157
81479 x 1
,
$1,100
2158
81406 x 1
81479 x 1
Gracile bone dysplasia FAM111A
$900
1802
81479 x 1
,
$900
1803
81479 x 1
,
$1,100
1804
81479 x 1
Greig cephalopolysyndactyly syndrome GLI3
$900
1161
81479 x 1
,
$900
1162
81479 x 1
,
$1,100
1555
81479 x 1
Hajdu-Cheney syndrome NOTCH2
$900
1400
81479 x 1
Hajdu-Cheney syndrome Option 1 NOTCH2
$900
1401
81479 x 1
,
$1,100
1556
81479 x 1
Hereditary Hemorrhagic telangiectasia NGS panel ACVRL1, ENG, GDF2, RASA1, SMAD4
$1,100
1721
81479 x 1
81406 x 1
,
$990
1722
81479 x 1
81405 x 1
,
$1,300
1723
81479 x 1
81406 x 1
81405 x 1
Hereditary hemorrhagic telangiectasia type 1 ENG
$900
1404
81406 x 1
,
$900
1405
81405 x 1
,
$1,100
1557
81406 x 1
81405 x 1
Hereditary hemorrhagic telangiectasia type 2 ACVRL1
$700
1406
81479 x 1
,
$900
1407
81479 x 1
,
$1,100
1558
81479 x 1
Hereditary hemorrhagic telangiectasia type 5 GDF2
$475
1718
81479 x 1
,
$900
1719
81479 x 1
,
$1,100
1720
81479 x 1
Hereditary motor and sensory neuropathy, type IIC TRPV4
$900
1163
81479 x 1
,
$900
1764
81479 x 1
,
$1,100
1765
81479 x 1
Homocystinuria CBS
$900
1164
81406 x 1
,
$900
1165
81479 x 1
,
$1,100
1563
81406 x 1
81479 x 1
Hyperostosis corticalis generalisata (Van Buchem disease) SOST
$445
1805
81479 x 1
,
$900
1806
81479 x 1
,
$1,100
1807
81479 x 1
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
$900
1166
81406 x 1
,
$900
1167
81479 x 1
,
$1,100
1564
81406 x 1
81479 x 1
Hyperparathyroidism, neonatal severe CASR
$690
1742
81405 x 1
,
$900
1743
81479 x 1
,
$1,100
1744
81405 x 1
81479 x 1
Hyperphosphatemic familial tumoral calcinosis - FGF23 FGF23
$492
2363
81404 x 1
,
$900
2364
81479 x 1
,
$1,100
2365
81404 x 1
81479 x 1
Hyperphosphatemic familial tumoral calcinosis - GALNT3 GALNT3
$690
2366
81479 x 1
,
$900
2435
81479 x 1
,
$1,100
2436
81479 x 1
Hyperphosphatemic familial tumoral calcinosis NGS panel GALNT3, KL, FGF23
$1,100
2369
81404 x 1
81479 x 1
,
$990
2370
81479 x 1
,
$1,300
2371
81404 x 1
81479 x 1
Hyperuricemic nephropathy, familial juvenile NGS panel REN, SEC61A1, UMOD
$1,100
5400
81406 x 1
81479 x 1
,
$990
5401
81479 x 1
,
$1,300
5402
81406 x 1
81479 x 1
Hypocalcemia, autosomal dominant 1 CASR
$690
1745
81405 x 1
,
$900
1746
81479 x 1
,
$1,100
1747
81405 x 1
81479 x 1
Hypocalciuric hypercalcemia, familial, type 1 CASR
$690
1751
81405 x 1
,
$900
1752
81479 x 1
,
$1,100
1753
81405 x 1
81479 x 1
Hypophosphatasia, infantile, childhood & adult types ALPL
$650
1168
81479 x 1
,
$900
1169
81479 x 1
,
$1,100
1565
81479 x 1
Hypotrichosis NGS panel APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE
$1,100
5306
81479 x 1
,
$990
5307
81479 x 1
,
$1,300
5308
81479 x 1
Ichthyosis NGS panel ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5
$1,300
5091
81479 x 1
,
$990
5092
81479 x 1
,
$1,500
5093
81479 x 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 VCP
$900
2400
81479 x 1
,
$900
2401
81479 x 1
,
$1,100
2402
81479 x 1
Insulin-like growth factor I deficiency IGF1
$900
2087
81479 x 1
,
$900
2088
81479 x 1
,
$1,100
2089
81479 x 1
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel IGF1, IGF1R
$1,100
2093
81479 x 1
,
$990
2094
81479 x 1
,
$1,300
2095
81479 x 1
Insulin-like growth factor I, resistance to IGF1R
$900
2090
81479 x 1
,
$900
2091
81479 x 1
,
$1,100
2092
81479 x 1
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1 (C5orf42), CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423, TTC21B
$1,300
5136
81406 x 1
81407 x 1
81479 x 1
81408 x 1
,
$990
5137
81405 x 1
81479 x 1
,
$1,500
5138
81406 x 1
81407 x 1
81408 x 1
81479 x 1
81405 x 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD4
$690
1410
81406 x 1
,
$900
1411
81405 x 1
,
$1,100
1566
81406 x 1
81405 x 1
Kabuki syndrome NGS panel HNRNPK, KDM6A, KMT2D, RAP1A, RAP1B
$1,100
5427
81479 x 1
,
$990
5428
81479 x 1
,
$1,300
5429
81479 x 1
KBG syndrome ANKRD11
$900
1966
81405 x 1
,
$900
1967
81479 x 1
,
$1,100
1968
81479 x 1
81405 x 1
Kenny-Caffey syndrome NGS panel FAM111A, TBCE
$1,100
1906
81479 x 1
,
$990
1907
81479 x 1
,
$1,300
1908
81479 x 1
Kenny-Caffey syndrome, type 1 TBCE
$900
1903
81479 x 1
,
$900
1904
81479 x 1
,
$1,100
1905
81479 x 1
Kenny-Caffey syndrome, type 2 FAM111A
$900
1808
81479 x 1
,
$900
1809
81479 x 1
,
$1,100
1810
81479 x 1
Keratoconus and related disorders NGS panel MIR184, VSX1, PRDM5, ZNF469
$1,100
5421
81479 x 1
,
$990
5422
81479 x 1
,
$1,300
5423
81479 x 1
Klippel-Feil Syndrome 1 GDF6
$490
1954
81479 x 1
,
$900
1955
81479 x 1
,
$1,100
1956
81479 x 1
Klippel-Feil syndrome 2 MEOX1
$530
1957
81479 x 1
,
$900
1958
81479 x 1
,
$1,100
1959
81479 x 1
Klippel-Feil syndrome 3 GDF3
$490
1960
81479 x 1
,
$900
1961
81479 x 1
,
$1,100
1962
81479 x 1
Klippel-Feil syndrome NGS panel GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
$1,100
1963
81479 x 1
,
$990
1964
81479 x 1
,
$1,300
1965
81479 x 1
Klippel-Feil syndrome, RIPPLY2 related RIPPLY2
$590
2324
81479 x 1
,
$900
2348
81479 x 1
,
$1,100
2349
81479 x 1
Kniest dysplasia COL2A1
$900
1170
81479 x 1
,
$900
1171
81479 x 1
,
$1,100
1567
81479 x 1
Knobloch syndrome 1 COL18A1
$900
1942
81479 x 1
,
$900
1943
81479 x 1
,
$1,100
1944
81479 x 1
Langer mesomelic dysplasia SHOX
$500
2327
81405 x 1
,
$900
2328
81479 x 1
,
$1,100
2329
81405 x 1
81479 x 1
Larsen syndrome, autosomal dominant FLNB
$900
1172
81479 x 1
,
$900
2394
81479 x 1
,
$1,100
2395
81479 x 1
Larsen syndrome, autosomal dominant Option 1 FLNB
$495
1173
81479 x 1
Larsen syndrome, autosomal recessive CHST3
$900
1175
81479 x 1
,
$900
1176
81479 x 1
,
$1,100
1568
81479 x 1
Lateral meningocele syndrome NOTCH3
$900
2096
81479 x 1
,
$900
2097
81479 x 1
,
$1,100
2098
81479 x 1
Leber congenital amaurosis and related disorders NGS panel AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
$1,300
5268
81404 x 1
81406 x 1
81407 x 1
81479 x 1
,
$990
5269
81479 x 1
,
$1,500
5270
81404 x 1
81406 x 1
81407 x 1
81479 x 1
Leri-Weill dyschondrosteosis SHOX
$500
2330
81405 x 1
,
$900
2331
81479 x 1
,
$1,100
2332
81405 x 1
81479 x 1
Lethal congenital contracture syndrome and related disorders NGS Panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24
$1,300
5300
81406 x 1
81479 x 1
,
$990
5301
81479 x 1
,
$1,500
5302
81406 x 1
81479 x 1
Limb girdle muscular dystrophy NGS panel ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
$1,300
5215
81404 x 1
81405 x 1
81406 x 1
81408 x 1
81479 x 1
,
$990
5216
81404 x 1
81479 x 1
,
$1,500
5217
81404 x 1
81405 x 1
81406 x 1
81408 x 1
81479 x 1
Lissencephaly and related disorders NGS panel ACTB, ACTG1, ADGRG1, ARX, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, ATP6V0A2
$1,400
5406
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
,
$990
5407
81403 x 1
81405 x 1
81479 x 1
,
$1,600
5408
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Lissencephaly core NGS panel ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
$1,100
5403
81404 x 1
81405 x 1
81406 x 1
81479 x 1
,
$990
5404
81403 x 1
81405 x 1
81479 x 1
,
$1,300
5405
81403 x 1
81404 x 1
81405 x 1
81406 x 1
81479 x 1
Loeys-Dietz syndrome 1 TGFBR1
$600
1177
81405 x 1
,
$900
1178
81479 x 1
,
$1,100
1569
81405 x 1
81479 x 1
Loeys-Dietz syndrome 2 TGFBR2
$600
1179
81405 x 1
,
$900
1180
81479 x 1
,
$1,100
1570
81405 x 1
81479 x 1
Loeys-Dietz syndrome 3 SMAD3
$690
1182
81479 x 1
,
$900
1183
81479 x 1
,
$1,100
1573
81479 x 1
Loeys-Dietz syndrome 4 TGFB2
$656
1184
81479 x 1
,
$900
1185
81479 x 1
,
$1,100
1574
81479 x 1
Loeys-Dietz Syndrome 5 TGFB3
$599
2133
81479 x 1
,
$900
2134
81479 x 1
,
$1,100
2135
81479 x 1
Loeys-Dietz syndrome core NGS panel TGFBR1, TGFBR2
$990
1181
81405 x 1
,
$990
1571
81479 x 1
,
$1,090
1572
81405 x 1
81479 x 1
Loeys-Dietz syndrome NGS panel TGFB3, SMAD3, TGFB2, TGFBR1, TGFBR2
$1,000
2208
81479 x 1
81405 x 1
,
$990
2209
81479 x 1
,
$1,200
2210
81405 x 1
81479 x 1
Long QT syndrome NGS panel AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN
$1,100
5324
81403 x 1
81404 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
,
$990
5325
81479 x 1
,
$1,300
5326
81403 x 1
81404 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Lysosomal acid lipase deficiency LIPA
$650
2403
81479 x 1
,
$900
2404
81479 x 1
,
$1,100
2405
81479 x 1
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
$900
2159
81479 x 1
,
$900
2160
81479 x 1
,
$1,100
2161
81479 x 1
Marfan syndrome and Loeys-Dietz syndrome core NGS panel FBN1, TGFBR1, TGFBR2
$1,050
5260
81405 x 1
81408 x 1
,
$990
5261
81479 x 1
,
$1,250
5262
81405 x 1
81408 x 1
81479 x 1
Marfan syndrome and Loeys-Dietz syndrome NGS panel TGFB3, FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2
$1,100
1192
81408 x 1
81405 x 1
81479 x 1
,
$990
1581
81479 x 1
,
$1,300
1582
81408 x 1
81405 x 1
81479 x 1
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel ACTA2, BGN, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, NOTCH1, SMAD2, TGFB3, FBN1, FBN2, FLNA, CBS, COL5A2, COL5A1, COL3A1, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
$1,300
5076
81410 x 1
,
$990
5077
81411 x 1
,
$1,500
5078
81410 x 1
81411 x 1
Marfan syndrome, type I FBN1
$900
1187
81408 x 1
,
$900
1188
81479 x 1
,
$1,100
1577
81408 x 1
81479 x 1
Marfan syndrome, type I / II NGS panel FBN1, TGFBR2
$1,000
1191
81408 x 1
81405 x 1
,
$990
1579
81479 x 1
,
$1,200
1580
81408 x 1
81405 x 1
81479 x 1
Marfan syndrome, type II TGFBR2
$600
1189
81405 x 1
,
$900
1190
81479 x 1
,
$1,100
1578
81405 x 1
81479 x 1
Marshall syndrome COL11A1
$900
1193
81479 x 1
,
$900
1194
81479 x 1
,
$1,100
1583
81479 x 1
Marshall-Smith syndrome NFIX
$900
1969
81479 x 1
,
$900
1970
81479 x 1
,
$1,100
1971
81479 x 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel AKT3, CCND2, PIK3R2
$1,100
5409
81479 x 1
,
$990
5410
81479 x 1
,
$1,300
5411
81479 x 1
Meier-Gorlin syndrome 1 ORC1
$900
1860
81479 x 1
,
$900
1861
81479 x 1
,
$1,100
1862
81479 x 1
Meier-Gorlin syndrome 2 ORC4
$900
1863
81479 x 1
,
$900
1864
81479 x 1
,
$1,100
1865
81479 x 1
Meier-Gorlin syndrome 3 ORC6
$900
1866
81479 x 1
,
$900
1867
81479 x 1
,
$1,100
1868
81479 x 1
Meier-Gorlin syndrome 4 CDT1
$900
1869
81479 x 1
,
$900
1870
81479 x 1
,
$1,100
1871
81479 x 1
Meier-Gorlin syndrome 5 CDC6
$900
1872
81479 x 1
,
$900
1873
81479 x 1
,
$1,100
1874
81479 x 1
Meier-Gorlin syndrome NGS panel CDC45, GMNN, MCM5, CDC6, CDT1, ORC1, ORC4, ORC6
$1,100
1875
81479 x 1
,
$990
1876
81479 x 1
,
$1,300
1877
81479 x 1
Melnick-Needles syndrome FLNA
$900
1195
81479 x 1
,
$900
5279
81479 x 1
,
$1,100
5280
81479 x 1
Menkes disease ATP7A
$900
1196
81479 x 1
,
$900
1197
81479 x 1
,
$1,100
1584
81479 x 1
Metaphyseal anadysplasia 1 MMP13
$900
1198
81479 x 1
,
$900
1199
81479 x 1
,
$1,100
1585
81479 x 1
Metaphyseal anadysplasia 2 MMP9
$900
1200
81479 x 1
,
$900
1201
81479 x 1
,
$1,100
1586
81479 x 1
Metaphyseal anadysplasia NGS panel MMP13, MMP9
$1,100
1202
81479 x 1
,
$990
1587
81479 x 1
,
$1,300
1588
81479 x 1
Metaphyseal chondrodysplasia, Jansen type PTH1R
$900
2045
81479 x 1
,
$900
2046
81479 x 1
,
$1,100
2047
81479 x 1
Metaphyseal chondrodysplasia, Schmid type COL10A1
$445
1203
81479 x 1
,
$900
2072
81479 x 1
,
$1,100
2073
81479 x 1
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly RUNX2
$900
1412
81479 x 1
,
$900
1413
81479 x 1
,
$1,100
1589
81479 x 1
Metaphyseal dysplasia without hypotrichosis RMRP
$350
1204
81479 x 1
,
$900
1897
81479 x 1
,
$1,100
1898
81479 x 1
Metaphyseal dysplasia, Spahr type MMP13
$900
1839
81479 x 1
,
$900
1840
81479 x 1
,
$1,100
1841
81479 x 1
Metatropic dysplasia TRPV4
$900
1205
81479 x 1
,
$900
1766
81479 x 1
,
$1,100
1767
81479 x 1
Microcephalic primordial dwarfism NGS panel ATR, ATRIP, CDC45, CENPJ, CEP152, CEP63, DNA2, DONSON, GMNN, LIG4, NIN, PCNT, RBBP8, RNU4ATAC, TRAIP, XRCC4, CDC6, CDT1, ORC1, ORC4, ORC6
$1,300
5166
81479 x 1
,
$990
5167
81479 x 1
,
$1,500
5168
81479 x 1
Microcephaly-capillary malformation syndrome STAMBP
$900
2162
81479 x 1
,
$900
2163
81479 x 1
,
$1,100
2164
81479 x 1
Mitral valve prolapse 2 DCHS1
$900
2333
81479 x 1
,
$900
2334
81479 x 1
,
$1,100
2335
81479 x 1
Mowat-Wilson syndrome ZEB2
$900
2336
81405 x 1
,
$900
2337
81404 x 1
,
$1,100
2338
81405 x 1
81404 x 1
Mucopolysaccharidosis NGS panel ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH
$1,100
5241
81405 x 1
81479 x 1
,
$990
5242
81479 x 1
,
$1,300
5243
81405 x 1
81479 x 1
Multiple epiphyseal dysplasia COMP
$900
1206
81479 x 1
,
$900
2074
81479 x 1
Multiple epiphyseal dysplasia Option 1 COMP
$1,100
2075
81479 x 1
Multiple epiphyseal dysplasia (MED) NGS panel CANT1, COL9A1, COL9A2, COMP, COL9A3, COL2A1, MATN3, SLC26A2
$1,100
5094
81479 x 1
,
$990
5095
81479 x 1
,
$1,300
5096
81479 x 1
Multiple exostoses NGS panel EXT2, EXT1
$1,100
1146
81479 x 1
,
$990
1542
81479 x 1
,
$1,300
1543
81479 x 1
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
$900
2048
81479 x 1
,
$900
2049
81479 x 1
,
$1,100
2050
81479 x 1
Multiple pterygium syndrome, lethal type & Escobar variant CHRNG
$900
2271
81479 x 1
,
$900
2272
81479 x 1
,
$1,100
2273
81479 x 1
Multiple pterygium syndrome, lethal type - CHRNA1 CHRNA1
$900
2265
81479 x 1
,
$900
2266
81479 x 1
,
$1,100
2267
81479 x 1
Multiple pterygium syndrome, lethal type - CHRND CHRND
$900
2268
81479 x 1
,
$900
2269
81479 x 1
,
$1,100
2270
81479 x 1
Multiple pterygium syndrome, lethal type NGS panel CHRNA1, CHRND, CHRNG
$1,100
2274
81479 x 1
,
$990
2275
81479 x 1
,
$1,300
2276
81479 x 1
Multiple self-healing squamous epithelioma TGFBR1
$600
1590
81405 x 1
,
$900
1591
81479 x 1
,
$1,100
1592
81405 x 1
81479 x 1
Myhre syndrome SMAD4
$690
1414
81406 x 1
,
$900
1415
81405 x 1
,
$1,100
1416
81405 x 1
81406 x 1
Myofibrillar myopathy and related disorders NGS panel ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
$1,100
5218
81404 x 1
81405 x 1
81406 x 1
81479 x 1
,
$990
5219
81479 x 1
,
$1,300
5220
81404 x 1
81405 x 1
81406 x 1
81479 x 1
Nail-patella syndrome LMX1B
$900
1210
81479 x 1
,
$900
5230
81479 x 1
,
$1,100
5231
81479 x 1
Nephrolithiasis and related disorders NGS panel ADCY10, AGXT, AP2S1, APRT, ATP6V0A4, ATP6V1B1, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, XDH, CASR, CA2
$1,300
5333
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
,
$990
5334
81479 x 1
,
$1,500
5335
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81479 x 1
Nephronophthisis and related disorders NGS panel AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, XPNPEP3, ZNF423, TTC21B, WDR19
$1,300
5394
81406 x 1
81407 x 1
81408 x 1
81479 x 1
,
$990
5395
81405 x 1
81479 x 1
,
$1,500
5396
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Nephrotic syndrome and related disorders NGS panel ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FN1, INF2, ITGA3, ITGB4, KANK2, LAMB2, MAGI2, MEFV, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, WDR73, WT1, COL4A5, LMX1B, TTC21B
$1,400
5221
81405 x 1
81406 x 1
81407 x 1
81479 x 1
81408 x 1
,
$990
5222
81479 x 1
81407 x 1
,
$1,600
5223
81405 x 1
81406 x 1
81407 x 1
81479 x 1
81408 x 1
Neu-Laxova syndrome 1 PHGDH
$900
2165
81479 x 1
,
$900
2166
81479 x 1
,
$1,100
2167
81479 x 1
Neu-Laxova syndrome 2 PSAT1
$900
2168
81479 x 1
,
$900
2169
81479 x 1
,
$1,100
2170
81479 x 1
Neu-Laxova syndrome NGS panel PHGDH, PSAT1
$1,100
2171
81479 x 1
,
$990
2172
81479 x 1
,
$1,300
2173
81479 x 1
Neurofibromatosis and related disorders NGS panel MLH1, MSH2, MSH6, NF1, NF2, SPRED1
$1,100
5191
81405 x 1
81406 x 1
81408 x 1
81479 x 1
,
$990
5192
81405 x 1
81479 x 1
,
$1,300
5193
81405 x 1
81406 x 1
81408 x 1
81479 x 1
Neurofibromatosis type I NF1
$900
2427
81408 x 1
,
$900
2428
81479 x 1
,
$1,100
2429
81479 x 1
81408 x 1
Neutropenia, severe congenital, X-linked WAS
$650
2406
81406 x 1
,
$900
2407
81479 x 1
,
$1,100
2408
81479 x 1
81406 x 1
Next Generation Sequencing (Any of the NGS panel Genes)
$900
5184
NKX2-5 related heart malformations NKX2-5
$490
2409
81479 x 1
,
$900
2410
81479 x 1
,
$1,100
2411
81479 x 1
Noonan spectrum disorder NGS panel A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
$1,300
5079
81442 x 1
,
$990
5080
81479 x 1
,
$1,500
5081
81479 x 1
81442 x 1
Noonan syndrome core NGS panel BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
$1,100
5349
81442 x 1
,
$990
5350
81479 x 1
,
$1,300
5351
81442 x 1
81479 x 1
Norrie disease NDP
$570
1417
81404 x 1
,
$900
1418
81403 x 1
,
$1,100
1593
81404 x 1
81403 x 1
Occipital horn syndrome ATP7A
$900
1211
81479 x 1
,
$900
1212
81479 x 1
,
$1,100
1594
81479 x 1
Oculodentodigital dysplasia GJA1
$490
2412
81479 x 1
,
$900
2413
81479 x 1

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