qGenEx AC. Panel Anomalías Esqueléticas y Craneales

Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.

qGenEx AC, analiza 140 genes asociados a anomalías craneofaciales usando secuenciación de exoma completo mediante NGS.

Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
GeneMedian coverage% covered > 10x% covered > 20xAssociated PhenotypeOMIM disease ID
ADAMTSL496.90.990.97Ectopia lentis et pupillae,225200
ADAMTSL496.90.990.97Ectopia lentis, isolated, autosomal recessive,225100
ALX1171.30.990.96?Frontonasal dysplasia 3613456
ALX3125.60.780.71Frontonasal dysplasia 1136760
ALX4132.60.960.89Frontonasal dysplasia 2613451
ALX4132.60.960.89Parietal foramina 2609597
ALX4132.60.960.89{Craniosynostosis 5 susceptibility to},615529
AMELX95.20.990.96Amelogenesis imperfecta, type 1E,301200
ANKRD11107.90.970.93KBG syndrome,148050
AXIN2133.310.99Colorectal cancer, somatic,114500
AXIN2133.310.99Oligodontia-colorectal cancer syndrome,608615
BCOR131.40.990.97Microphthalmia, syndromic 2300166
BMP4154.510.99Microphthalmia, syndromic 6607932
BMP4154.510.99Orofacial cleft 11600625
C4orf26226.311Amelogenesis imperfecta, type IIA4,614832
CDC45184.70.990.97Meier-Gorlin syndrome 7617063
CDON156.10.990.99Holoprosencephaly 11614226
CDSN25.50.630.46Hypotrichosis 2146520
CDSN25.50.630.46Peeling skin syndrome 1270300
CHD71610.990.98CHARGE syndrome,214800
CHD71610.990.98Hypogonadotropic hypogonadism 5 with or without anosmia,612370
COL11A198.50.940.88Fibrochondrogenesis 1228520
COL11A198.50.940.88Marshall syndrome,154780
COL11A198.50.940.88Stickler syndrome, type II,604841
COL11A198.50.940.88{Lumbar disc herniation, susceptibility to},603932
COL11A214.10.570.23Deafness, autosomal dominant 13601868
COL11A214.10.570.23Deafness, autosomal recessive 53609706
COL11A214.10.570.23Fibrochondrogenesis 2614524
COL11A214.10.570.23Otospondylomegaepiphyseal dysplasia,215150
COL11A214.10.570.23Stickler syndrome, type III,184840
COL11A214.10.570.23Weissenbacher-Zweymuller syndrome,277610
COL2A1115.20.990.98Achondrogenesis, type II or hypochondrogenesis,200610
COL2A1115.20.990.98Avascular necrosis of the femoral head,608805
COL2A1115.20.990.98Czech dysplasia,609162
COL2A1115.20.990.98Epiphyseal dysplasia, multiple, with myopia and deafness,132450
COL2A1115.20.990.98Kniest dysplasia,156550
COL2A1115.20.990.98Legg-Calve-Perthes disease,150600
COL2A1115.20.990.98Osteoarthritis with mild chondrodysplasia,604864
COL2A1115.20.990.98Otospondylomegaepiphyseal dysplasia,215150
COL2A1115.20.990.98Platyspondylic skeletal dysplasia, Torrance type,151210
COL2A1115.20.990.98SED congenita,183900
COL2A1115.20.990.98SMED Strudwick type,184250
COL2A1115.20.990.98Spondyloepiphyseal dysplasia, Stanescu type,616583
COL2A1115.20.990.98Spondyloperipheral dysplasia,271700
COL2A1115.20.990.98Stickler sydrome, type I, nonsyndromic ocular,609508
COL2A1115.20.990.98Stickler syndrome, type I,108300
COL2A1115.20.990.98Vitreoretinopathy with phalangeal epiphyseal dysplasia108300
COL9A1128.20.990.95Stickler syndrome, type IV,614134
COL9A1128.20.990.95/?Epiphyseal dysplasia, multiple, 6614135
COL9A269.70.980.91Epiphyseal dysplasia, multiple, 2600204
COL9A269.70.980.91?Stickler syndrome, type V,614284
COL9A269.70.980.91{Intervertebral disc disease, susceptibility to},603932
COL9A373.80.960.88Epiphyseal dysplasia, multiple, 3 with or without myopathy,600969
COL9A373.80.960.88{Intervertebral disc disease, susceptibility to},603932
CTSK117.210.99Pycnodysostosis,265800
DHODH111.810.99Miller syndrome,263750
DISP1222.40.990.99No OMIM phenotype263750
DISP1222.40.990.99Craniofacial and neuro-developmental abnormalities (Roessler -2009 Hum Genet 125,393)263750
DISP1222.40.990.99Diaphragmatic hernia, congenital (Kantarci -2010 Am J Med Genet A 152A,2493)263750
DISP1222.40.990.99Tetralogy of Fallot (Silversides -2012 PLoS Genet 8 e1002843)
DLX3137.410.99Amelogenesis imperfecta, type IV,104510
DLX3137.410.99Trichodontoosseous syndrome,190320
DLX4146.10.990.99?Orofacial cleft 15616788
DSPP19110.99Deafness, autosomal dominant 39 with dentinogenesis,605594
DSPP19110.99Dentin dysplasia, type II,125420
DSPP19110.99Dentinogenesis imperfecta, Shields type II,125490
DSPP19110.99Dentinogenesis imperfecta, Shields type III,125500
EDA1010.90.79Ectodermal dysplasia 1 hypohidrotic, X-linked,305100
EDA1010.90.79Tooth agenesis, selective, X-linked 1313500
EDAR145.90.990.98Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant,129490
EDAR145.90.990.98Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,224900
EDAR145.90.990.98[Hair morphology 1 hair thickness],612630
EDARADD98.60.970.92Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant,614940
EDARADD98.60.970.92Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive,614941
EDN1158.511Auriculocondylar syndrome 3615706
EDN1158.511Question mark ears, isolated,612798
EDN1158.511{High density lipoprotein cholesterol level QTL 7}612798
EFNA4118.411No OMIM phenotype612798
EFNA4118.411Craniosynostosis 1 (Merrill et al, -2006 Hum Molec Genet 15)612798
EFNB1142.410.99Craniofrontonasal dysplasia,304110
EFTUD2125.40.990.99Mandibulofacial dysostosis, Guion-Almeida type,610536
EIF4A3122.110.99Robin sequence with cleft mandible and limb abnormalities,268305
ENAM152.110.99Amelogenesis imperfecta, type IB,104500
ENAM152.110.99Amelogenesis imperfecta, type IC,204650
ERF125.90.990.97Craniosynostosis 4600775
EYA1160.10.990.98Anterior segment anomalies with or without cataract,113650
EYA1160.10.990.98Branchiootic syndrome 1602588
EYA1160.10.990.98Branchiootorenal syndrome 1 with or without cataracts,113650
EYA1160.10.990.98?Otofaciocervical syndrome,166780
EZH2153.30.990.98Weaver syndrome,277590
FAM83H83.20.950.89Amelogenesis imperfecta, type III,130900
FGD198.10.950.89Aarskog-Scott syndrome,305400
FGD198.10.950.89Mental retardation, X-linked syndromic 16305400
FGF10150.111Aplasia of lacrimal and salivary glands,180920
FGF10150.111LADD syndrome,149730
FGF380.80.950.83Deafness, congenital with inner ear agenesis, microtia, and microdontia,610706
FGF8127.40.850.79Hypogonadotropic hypogonadism 6 with or without anosmia,612702
FGFR1161.50.990.97Encephalocraniocutaneous lipomatosis,613001
FGFR1161.50.990.97Hartsfield syndrome,615465
FGFR1161.50.990.97Hypogonadotropic hypogonadism 2 with or without anosmia,147950
FGFR1161.50.990.97Jackson-Weiss syndrome,123150
FGFR1161.50.990.97Osteoglophonic dysplasia,166250
FGFR1161.50.990.97Pfeiffer syndrome,101600
FGFR1161.50.990.97Trigonocephaly 1190440
FGFR2156.40.960.95Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,207410
FGFR2156.40.960.95Apert syndrome,101200
FGFR2156.40.960.95Beare-Stevenson cutis gyrata syndrome,123790
FGFR2156.40.960.95Bent bone dysplasia syndrome,614592
FGFR2156.40.960.95Craniofacial-skeletal-dermatologic dysplasia,101600
FGFR2156.40.960.95Craniosynostosis, nonspecific101600
FGFR2156.40.960.95Crouzon syndrome,123500
FGFR2156.40.960.95Gastric cancer, somatic,613659
FGFR2156.40.960.95Jackson-Weiss syndrome,123150
FGFR2156.40.960.95LADD syndrome,149730
FGFR2156.40.960.95Pfeiffer syndrome,101600
FGFR2156.40.960.95Saethre-Chotzen syndrome,101400
FGFR2156.40.960.95Scaphocephaly and Axenfeld-Rieger anomaly101400
FGFR2156.40.960.95Scaphocephaly, maxillary retrusion, and mental retardation,609579
FGFR3120.20.990.99Achondroplasia,100800
FGFR3120.20.990.99Bladder cancer, somatic,109800
FGFR3120.20.990.99CATSHL syndrome,610474
FGFR3120.20.990.99Cervical cancer, somatic,603956
FGFR3120.20.990.99Colorectal cancer, somatic,114500
FGFR3120.20.990.99Crouzon syndrome with acanthosis nigricans,612247
FGFR3120.20.990.99Hypochondroplasia,146000
FGFR3120.20.990.99LADD syndrome,149730
FGFR3120.20.990.99Muenke syndrome,602849
FGFR3120.20.990.99Nevus, epidermal, somatic,162900
FGFR3120.20.990.99SADDAN,616482
FGFR3120.20.990.99Spermatocytic seminoma, somatic,273300
FGFR3120.20.990.99Thanatophoric dysplasia, type I,187600
FGFR3120.20.990.99Thanatophoric dysplasia, type II,187601
FOXC140.50.930.77Axenfeld-Rieger syndrome, type 3602482
FOXC140.50.930.77Iridogoniodysgenesis, type 1601631
FOXC140.50.930.77Iris hypoplasia and glaucoma,601631
FOXC140.50.930.77Rieger or Axenfeld anomalies,602482
FOXE131.40.760.6Bamforth-Lazarus syndrome,241850
FOXE131.40.760.6{Thyroid cancer, nonmedullary, 4},616534
GDF3139.511Klippel-Feil syndrome 3 autosomal dominant,613702
GDF3139.511Microphthalmia with coloboma 6613703
GDF3139.511Microphthalmia, isolated 7613704
GDF685.60.970.89Klippel-Feil syndrome 1 autosomal dominant,118100
GDF685.60.970.89Leber congenital amaurosis 17615360
GDF685.60.970.89Microphthalmia with coloboma 6 digenic,613703
GDF685.60.970.89Microphthalmia, isolated 4613094
GJA1218.111Atrioventricular septal defect 3600309
GJA1218.111Craniometaphyseal dysplasia, autosomal recessive,218400
GJA1218.111Erythrokeratodermia variabilis et progressiva,133200
GJA1218.111Hypoplastic left heart syndrome 1241550
GJA1218.111Oculodentodigital dysplasia,164200
GJA1218.111Oculodentodigital dysplasia, autosomal recessive,257850
GJA1218.111Palmoplantar keratoderma with congenital alopecia,104100
GJA1218.111Syndactyly, type III,186100
GJB6226.911Deafness, autosomal dominant 3B,612643
GJB6226.911Deafness, autosomal recessive 1B,612645
GJB6226.911Deafness, digenic GJB2/GJB6,220290
GJB6226.911Ectodermal dysplasia 2 Clouston type,129500
GLI2139.50.980.96Culler-Jones syndrome,615849
GLI2139.50.980.96Holoprosencephaly-9,610829
GLI3170.910.99Greig cephalopolysyndactyly syndrome,175700
GLI3170.910.99Pallister-Hall syndrome,146510
GLI3170.910.99Polydactyly, postaxial, types A1 and B,174200
GLI3170.910.99Polydactyly, preaxial, type IV,174700
GLI3170.910.99{Hypothalamic hamartomas, somatic},241800
GNAI3126.80.990.94Auriculocondylar syndrome 1602483
GRHL316011Van der Woude syndrome 2606713
HOXA290.90.990.95?Microtia with or without hearing impairment (AD),612290
HOXA290.90.990.95?Microtia, hearing impairment, and cleft palate (AR),612290
IFT122164.410.99Cranioectodermal dysplasia 1218330
IFT43130.611Cranioectodermal dysplasia 3614099
IKBKG56.20.840.7Ectodermal dysplasia, hypohidrotic, with immune deficiency,300291
IKBKG56.20.840.7Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency,300301
IKBKG56.20.840.7Immunodeficiency 33300636
IKBKG56.20.840.7Immunodeficiency, isolated,300584
IKBKG56.20.840.7Incontinentia pigmenti,308300
IKBKG56.20.840.7Invasive pneumococcal disease, recurrent isolated, 2300640
IL11RA152.110.99Craniosynostosis and dental anomalies,614188
IRF61360.990.97Popliteal pterygium syndrome 1119500
IRF61360.990.97van der Woude syndrome,119300
IRF61360.990.97{Orofacial cleft 6},608864
KAT6B202.70.990.98Genitopatellar syndrome,606170
KAT6B202.70.990.98SBBYSS syndrome,603736
KDM1A154.50.980.96Cleft palate, psychomotor retardation, and distinctive facial features,616728
KDM6A127.50.930.86Kabuki syndrome 2300867
KLK4210.90.990.98Amelogenesis imperfecta, type IIA1,204700
KMT2D162.10.990.99Kabuki syndrome 1147920
KREMEN1164.90.960.93No OMIM phenotype147920
LRP2199.910.99Donnai-Barrow syndrome,222448
LRP6186.610.99Tooth agenesis, selective, 7616724
LRP6186.610.99{Coronary artery disease, autosomal dominant, 2},610947
LTBP3126.40.980.96Dental anomalies and short stature,601216
MASP1161.210.993MC syndrome 1257920
MED12116.50.980.95Lujan-Fryns syndrome,309520
MED12116.50.980.95Ohdo syndrome, X-linked,300895
MED12116.50.980.95Opitz-Kaveggia syndrome,305450
MEGF81340.990.98Carpenter syndrome 2614976
MEOX1105.40.980.94Klippel-Feil syndrome 2214300
MID1196.60.990.98Opitz GBBB syndrome, type I,300000
MITF1630.990.99Tietz albinism-deafness syndrome,103500
MITF1630.990.99Waardenburg syndrome, type 2A,193510
MITF1630.990.99Waardenburg syndrome/ocular albinism, digenic,103470
MITF1630.990.99{Melanoma, cutaneous malignant, susceptibility to, 8},614456
MMP20117.50.990.99Amelogenesis imperfecta, type IIA2,612529
MSX188.10.970.91Ectodermal dysplasia 3 Witkop type,189500
MSX188.10.970.91Orofacial cleft 5608874
MSX188.10.970.91Tooth agenesis, selective, 1 with or without orofacial cleft,106600
MSX2105.40.990.94Craniosynostosis, type 2604757
MSX2105.40.990.94Parietal foramina 1168500
MSX2105.40.990.94Parietal foramina with cleidocranial dysplasia,168550
NAA101110.990.96Ogden syndrome,300855
NAA101110.990.96?Microphthalmia, syndromic 1309800
NFKBIA117.70.980.94Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency,612132
NIPBL129.30.960.94Cornelia de Lange syndrome 1122470
NOG195.210.99Brachydactyly, type B2,611377
NOG195.210.99Multiple synostoses syndrome 1186500
NOG195.210.99Stapes ankylosis with broad thumb and toes,184460
NOG195.210.99Symphalangism, proximal, 1A,185800
NOG195.210.99Tarsal-carpal coalition syndrome,186570
NSD1172.310.99Beckwith-Wiedemann syndrome,130650
NSD1172.310.99Leukemia, acute myeloid,601626
NSD1172.310.99Sotos syndrome 1117550
OFD156.10.840.71Joubert syndrome 10300804
OFD156.10.840.71Orofaciodigital syndrome I,311200
OFD156.10.840.71Simpson-Golabi-Behmel syndrome, type 2300209
OFD156.10.840.71?Retinitis pigmentosa 23300424
OTX2149.810.99Microphthalmia, syndromic 5610125
OTX2149.810.99Pituitary hormone deficiency, combined, 6613986
OTX2149.810.99Retinal dystrophy, early-onset, with or without pituitary dysfunction,610125
PAX3129.70.990.99Craniofacial-deafness-hand syndrome,122880
PAX3129.70.990.99Rhabdomyosarcoma 2 alveolar,268220
PAX3129.70.990.99Waardenburg syndrome, type 1193500
PAX3129.70.990.99Waardenburg syndrome, type 3148820
PAX6156.110.99Aniridia,106210
PAX6156.110.99Cataract with late-onset corneal dystrophy,106210
PAX6156.110.99Coloboma of optic nerve,120430
PAX6156.110.99Coloboma, ocular,120200
PAX6156.110.99Foveal hypoplasia 1136520
PAX6156.110.99Keratitis,148190
PAX6156.110.99Optic nerve hypoplasia,165550
PAX6156.110.99Peters anomaly,604229
PAX6156.110.99?Morning glory disc anomaly,120430
PAX7115.60.990.99Rhabdomyosarcoma 2 alveolar,268220
PAX9254.30.990.98Tooth agenesis, selective, 3604625
PITX2155.70.990.97Axenfeld-Rieger syndrome, type 1180500
PITX2155.70.990.97Iridogoniodysgenesis, type 2137600
PITX2155.70.990.97Peters anomaly,604229
PITX2155.70.990.97Ring dermoid of cornea,180550
PLCB4147.90.990.95Auriculocondylar syndrome 2614669
POLR1C124.80.990.95Leukodystrophy, hypomyelinating, 11616494
POLR1C124.80.990.95Treacher Collins syndrome 3248390
POLR1D196.111Treacher Collins syndrome 2613717
PORCN145.410.99Focal dermal hypoplasia,305600
PTCH1138.60.980.96Basal cell carcinoma, somatic,605462
PTCH1138.60.980.96Basal cell nevus syndrome,109400
PTCH1138.60.980.96Holoprosencephaly-7,610828
PTH1R115.50.990.99Chondrodysplasia, Blomstrand type,215045
PTH1R115.50.990.99Eiken syndrome,600002
PTH1R115.50.990.99Failure of tooth eruption, primary,125350
PTH1R115.50.990.99Metaphyseal chondrodysplasia, Murk Jansen type,156400
PVRL116310.99Cleft lip/palate-ectodermal dysplasia syndrome,225060
PVRL116310.99Orofacial cleft 7225060
RAB23121.60.990.98Carpenter syndrome,201000
RAD2197.70.990.96Cornelia de Lange syndrome 4614701
RECQL41500.980.97Baller-Gerold syndrome,218600
RECQL41500.980.97RAPADILINO syndrome,266280
RECQL41500.980.97Rothmund-Thomson syndrome,268400
RUNX2106.20.740.74Cleidocranial dysplasia,119600
RUNX2106.20.740.74Cleidocranial dysplasia, forme fruste, dental anomalies only,119600
RUNX2106.20.740.74Cleidocranial dysplasia, forme fruste, with brachydactyly,119600
RUNX2106.20.740.74Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly,156510
SALL1147.90.990.98Townes-Brocks branchiootorenal-like syndrome,107480
SALL1147.90.990.98Townes-Brocks syndrome,107480
SALL4154.60.980.96Duane-radial ray syndrome,607323
SALL4154.60.980.96IVIC syndrome,147750
SATB2120.10.980.93Glass syndrome,612313
SEMA3E167.90.990.98?CHARGE syndrome,214800
SF3B491.80.990.95Acrofacial dysostosis 1 Nager type,154400
SH3BP2120.10.910.9Cherubism,118400
SHH110.40.980.94Holoprosencephaly-3,142945
SHH110.40.980.94Microphthalmia with coloboma 5611638
SHH110.40.980.94Schizencephaly,269160
SHH110.40.980.94Single median maxillary central incisor,147250
SIX1121.10.990.96Brachiootic syndrome 3608389
SIX1121.10.990.96Deafness, autosomal dominant 23605192
SIX3157.30.990.96Holoprosencephaly-2,157170
SIX3157.30.990.96Schizencephaly,269160
SKI90.10.980.95Shprintzen-Goldberg syndrome,182212
SMC1A12010.99Cornelia de Lange syndrome 2,30059182212
SMC395.10.930.86Cornelia de Lange syndrome 3610759
SMOC2119.40.970.92Dentin dysplasia, type I, with microdontia and misshapen teeth,125400
SNAI2151.210.99Piebaldism,172800
SNAI2151.210.99Waardenburg syndrome, type 2D,608890
SOX1080.40.970.93PCWH syndrome,609136
SOX1080.40.970.93Waardenburg syndrome, type 2E, with or without neurologic involvement,611584
SOX1080.40.970.93Waardenburg syndrome, type 4C,613266
SOX6123.10.990.97No OMIM phenotype613266
SOX6123.10.990.97Developmental delay and spinal syrinx (Scott -2014 J Child Neurol 29 NP164)613266
SOX6123.10.990.97Dystonia, dopa-responsive (Ebrahimi-Fakhari -2015 Pediatr Neurol 52,115)613266
SOX6123.10.990.97?Craniosynostosis (Tagariello -2006 J Med Genet 43,534)613266
SPECC1L172.611Opitz GBBB syndrome, type II,145410
SPECC1L172.611?Facial clefting, oblique, 1600251
SUMO117.90.560.36Orofacial cleft 10613705
TBX22138.30.990.96Cleft palate with ankyloglossia,303400
TBX22138.30.990.96?Abruzzo-Erickson syndrome,302905
TCF1216810.99Craniosynostosis 3615314
TCOF1102.60.990.97Treacher Collins syndrome 1154500
TFAP2A13810.99Branchiooculofacial syndrome,113620
TGFBR1213.80.950.93Loeys-Dietz syndrome 1609192
TGFBR1213.80.950.93{Multiple self-healing squamous epithelioma, susceptibility to},132800
TGFBR2215.311Colorectal cancer, hereditary nonpolyposis, type 6614331
TGFBR2215.311Esophageal cancer, somatic,133239
TGFBR2215.311Loeys-Dietz syndrome 2610168
TGIF1151.60.990.99Holoprosencephaly-4,142946
TP63217.611ADULT syndrome,103285
TP63217.611Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292
TP63217.611Hay-Wells syndrome,106260
TP63217.611Limb-mammary syndrome,603543
TP63217.611Orofacial cleft 8129400
TP63217.611Rapp-Hodgkin syndrome,129400
TP63217.611Split-hand/foot malformation 4605289
TRAF6105.90.960.88No OMIM phenotype605289
TRAF6105.90.960.88Ectodermal dysplasia, hypohidrotic (Wisniewski -2012 Br J Dermatol 166,1353)605289
TSHZ1173.30.980.98Aural atresia, congenital,607842
TWIST11430.950.86Craniosynostosis, type 1123100
TWIST11430.950.86Robinow-Sorauf syndrome,180750
TWIST11430.950.86Saethre-Chotzen syndrome with eyelid anomalies,101400
TWIST11430.950.86Saethre-Chotzen syndrome,101400
UBB71.710.99Cleft palate, isolated,119540
VAX161.30.890.79?Microphthalmia, syndromic 11614402
WDR19153.50.990.97Nephronophthisis 13614377
WDR19153.50.990.97Senior-Loken syndrome 8616307
WDR19153.50.990.97?Cranioectodermal dysplasia 4614378
WDR19153.50.990.97?Short-rib thoracic dysplasia 5 with or without polydactyly,614376
WDR35167.20.980.96Cranioectodermal dysplasia 2613610
WDR35167.20.980.96Short-rib thoracic dysplasia 7 with or without polydactyly,614091
WDR72161.70.990.97Amelogenesis imperfecta, type IIA3,613211
WNT10A114.70.990.98Odontoonychodermal dysplasia,257980
WNT10A114.70.990.98Schopf-Schulz-Passarge syndrome,224750
WNT10A114.70.990.98Tooth agenesis, selective, 4150400
ZEB2181.510.99Mowat-Wilson syndrome,235730
ZIC2111.10.890.79Holoprosencephaly-5,609637

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2) Imprimir la hoja de solicitud.

Una vez debidamente cumplimentada, imprimir y firmar.

3) Recoger la muestra correspondiente.

Destacar la importancia de identificar correctamente la muestra con el nombre o identificador indicado en la solicitud.

4) Preparar adecuadamente para el envío.

Proteger la muestra biológica y adjuntar la hoja de solicitud y el consentimiento informado.

5) Solicitar la recogida de la muestra al 932 301 270
Requisitos de las muestras biológicas
  • Sangre EDTA: 1 tubo de 3-5mL (niños 1mL mínimo).
  • Alternativamente se puede solicitar kit de recogida de saliva o células bucales.
  • Sangre en papel: un mínimo de 10 spots en tarjeta Guthrie o papel de filtro.
Preparación para el envío
Llámenos al 932 301 270 cuando tenga todo preparado y pasaremos a recoger sus muestras.

Las muestras de sangre en EDTA, ADN purificado, saliva y sangre en papel son estables a temperatura ambiente durante 3 o 4 días. Las muestras pueden mandarse, convenientemente protegidas, por correo ordinario o mensajería.