qGenEx TDS. Panel Trastornos del Desarrollo Sexual

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

qGenEx TDS analiza 48 genes asociados a trastornos del desarrollo sexual 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 Phenotype description and OMIM disease ID 
AKR1C2192.80.960.9146XY sex reversal 8614279
AKR1C2192.80.960.91Obesity, hyperphagia, and developmental delay614279
AMH41.60.940.78Persistent Mullerian duct syndrome, type I,261550
AMHR2158.50.990.98Persistent Mullerian duct syndrome, type II,261550
AR97.80.950.89Androgen insensitivity,300068
AR97.80.950.89Androgen insensitivity, partial, with or without breast cancer,312300
AR97.80.950.89Hypospadias 1 X-linked,300633
AR97.80.950.89Spinal and bulbar muscular atrophy of Kennedy,313200
AR97.80.950.89{Prostate cancer, susceptibility to},176807
ARX39.10.820.7Epileptic encephalopathy, early infantile, 1308350
ARX39.10.820.7Hydranencephaly with abnormal genitalia,300215
ARX39.10.820.7Lissencephaly, X-linked 2300215
ARX39.10.820.7Mental retardation, X-linked 29 and others,300419
ARX39.10.820.7Partington syndrome,309510
ARX39.10.820.7Proud syndrome,300004
ATRX94.50.970.93Alpha-thalassemia myelodysplasia syndrome, somatic,300448
ATRX94.50.970.93Alpha-thalassemia/mental retardation syndrome,301040
ATRX94.50.970.93Mental retardation-hypotonic facies syndrome, X-linked,309580
B9D1119.30.920.91?Meckel syndrome 9614209
CBX296.60.990.97?46XY sex reversal 5613080
CEP4196.70.970.9Joubert syndrome 15614464
CYB5A139.811Methemoglobinemia, type IV,250790
CYP11A1141.10.990.97Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete,613743
CYP11B1182.20.990.99Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency,202010
CYP11B1182.20.990.99Aldosteronism, glucocorticoid-remediable,103900
CYP17A1146.210.9917,20-lyase deficiency, isolated,202110
CYP17A1146.210.9917-alpha-hydroxylase/17,20-lyase deficiency,202110
CYP19A1206.611Aromatase deficiency,613546
CYP19A1206.611Aromatase excess syndrome,139300
DHCR7176.811Smith-Lemli-Opitz syndrome,270400
DHH117.90.990.9946XY partial gonadal dysgenesis, with minifascicular neuropathy,607080
DHH117.90.990.9946XY sex reversal 7233420
DMRT1104.30.980.95No OMIM phenotype233420
DMRT1104.30.980.95XY gonadal dysgenesis (Ledig -2010 Hum Reprod 25,2637)233420
DMRT1104.30.980.95Azoospermia (Lopes -2013 PLoS Genet 9,e1003349)
DMRT1104.30.980.95?Male infertility (Tewes -2014 Fertil Steril 102 816)1003349)
DMRT1104.30.980.95?XY sex reversal (Raymond -1999 Hum Mol Genet 8 989)1003349)
DYNC2H1102.90.950.86Short-rib thoracic dysplasia 3 with or without polydactyly,613091
FRAS116510.99Fraser syndrome,219000
FREM2199.10.990.99Fraser syndrome,219000
GATA489.10.710.62Atrial septal defect 2607941
GATA489.10.710.62Atrioventricular septal defect 4614430
GATA489.10.710.62Tetralogy of Fallot,187500
GATA489.10.710.62Ventricular septal defect 1614429
GATA489.10.710.62?Testicular anomalies with or without congenital heart disease,615542
GRIP1152.30.990.99Fraser syndrome,219000
HOXA13520.720.65Guttmacher syndrome,176305
HOXA13520.720.65Hand-foot-uterus syndrome,140000
HSD17B317211Pseudohermaphroditism, male, with gynecomastia,264300
HSD3B2178.2113-beta-hydroxysteroid dehydrogenase, type II, deficiency,201810
LHCGR169.90.970.93Leydig cell adenoma, somatic, with precocious puberty,176410
LHCGR169.90.970.93Leydig cell hypoplasia with hypergonadotropic hypogonadism,238320
LHCGR169.90.970.93Leydig cell hypoplasia with pseudohermaphroditism,238320
LHCGR169.90.970.93Luteinizing hormone resistance, female,238320
LHCGR169.90.970.93Precocious puberty, male,176410
MAMLD1139.30.990.98Hypospadias 2 X-linked,300758
MAP3K1182.30.940.946XY sex reversal 6613762
MKKS239.60.890.89Bardet-Biedl syndrome 6605231
MKKS239.60.890.89McKusick-Kaufman syndrome,236700
NEK11240.970.93Short-rib thoracic dysplasia 6 with or without polydactyly,263520
NR0B1130.10.990.9746XY sex reversal 2 dosage-sensitive,300018
NR0B1130.10.990.97Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism,300200
NR3C115910.99Glucocorticoid resistance,615962
NR5A195.60.990.9846XY sex reversal 3612965
NR5A195.60.990.98Adrenocortical insufficiency612965
NR5A195.60.990.98Premature ovarian failure 7612964
NR5A195.60.990.98Spermatogenic failure 8613957
POR168.310.99Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,201750
POR168.310.99Disordered steroidogenesis due to cytochrome P450 oxidoreductase,613571
RIPK4157.60.990.99Popliteal pterygium syndrome, Bartsocas-Papas type,263650
ROR2192.60.990.98Brachydactyly, type B1,113000
ROR2192.60.990.98Robinow syndrome, autosomal recessive,268310
RSPO1123.910.99Palmoplantar hyperkeratosis and true hermaphroditism,610644
RSPO1123.910.99Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal,610644
SOX345.50.940.8Mental retardation, X-linked, with isolated growth hormone deficiency,300123
SOX345.50.940.8Panhypopituitarism, X-linked,312000
SOX9120.70.960.91Acampomelic campomelic dysplasia,114290
SOX9120.70.960.91Campomelic dysplasia with autosomal sex reversal,114290
SOX9120.70.960.91Campomelic dysplasia,114290
SRD5A291.810.97Pseudovaginal perineoscrotal hypospadias,264600
SRY44.50.40.446XX sex reversal 1400045
SRY44.50.40.446XY sex reversal 1400046
STAR134.50.990.99Lipoid adrenal hyperplasia,201710
TCTN3135.80.990.99Joubert syndrome 18614815
TCTN3135.80.990.99Orofaciodigital syndrome IV,258860
TSPYL1145.810.99Sudden infant death with dysgenesis of the testes syndrome,608800
WDR60120.80.980.95Short-rib thoracic dysplasia 8 with or without polydactyly,615503
WNT4274.70.930.92Mullerian aplasia and hyperandrogenism,158330
WNT4274.70.930.92SERKAL syndrome,611812
WT11000.950.89Denys-Drash syndrome,194080
WT11000.950.89Frasier syndrome,136680
WT11000.950.89Meacham syndrome,608978
WT11000.950.89Mesothelioma, somatic,156240
WT11000.950.89Nephrotic syndrome, type 4256370
WT11000.950.89Wilms tumor, type 1194070
ZFPM2221.70.990.9946XY sex reversal 9616067
ZFPM2221.70.990.99Diaphragmatic hernia 3610187
ZFPM2221.70.990.99Tetralogy of Fallot,187500

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