Portadors qCarrier Plus

Gene	Associated Phenotype description	OMIM disease ID
HSD17B10	17-beta-hydroxysteroid dehydrogenase X deficiency	300438
ACADSB	2-methylbutyrylglycinuria	610006
MCCC1	3-Methylcrotonyl-CoA carboxylase 1 deficiency	210200
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency	210210
FGD1	Aarskog-Scott syndrome; Mental retardation, X-linked 16	305400
SLC26A2	Achondrogenesis Ib	600972
CNGB3	Achromatopsia-3	262300
ACADM	Acyl-CoA dehydrogenase, medium chain, deficiency of	201450
ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of	201470
CYP17A1	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	202110
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	201910
ABCD1	Adrenoleukodystrophy	300100
HGD	Alkaptonuria	203500
SLC16A2	Allan-Herndon-Dudley syndrome	300523
ACAT1	Alpha-methylacetoacetic aciduria	203750
ATRX	Alpha-thalassemia/mental retardation syndrome	301040
COL4A4	Alport syndrome, autosomal recessive	203780
RMRP	Anauxetic dysplasia	607095
AR	Androgen insensitivity	300068
ARG1	Argininemia	207800
ASL	Argininosuccinic aciduria	207900
PRPS1	Arts syndrome	301835
AGA	Aspartylglucosaminuria	208400
TTPA	Ataxia with isolated vitamin E deficiency	277460
ATM	Ataxia-telangiectasia	208900
OTOF	Auditory neuropathy, autosomal recessive, 1	601071
AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia	240300
BBS1	Bardet-Biedl syndrome 1	209900
BBS10	Bardet-Biedl syndrome 10	615987
CEP290	Bardet-Biedl syndrome 14; Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6	615991; 610188; 611134; 610189
BBS2	Bardet-Biedl syndrome 2	615981
BSND	Bartter syndrome, type 4a	602522
DMD	Duchenne muscular dystrophy; Becker muscular dystrophy	310200; 300376
BTD	Biotinidase deficiency	253260
BCS1L	Bjornstad syndrome	262000
ASPA	Canavan disease	271900
CPS1	Carbamoylphosphate synthetase I deficiency	237300
SLC22A5	Carnitine deficiency, systemic primary	212140
SLC25A20	Carnitine-acylcarnitine translocase deficiency	212138
CYP27A1	Cerebrotendinous xanthomatosis	213700
PPT1	Ceroid lipofuscinosis, neuronal, 1	256730
CTSD	Ceroid lipofuscinosis, neuronal, 10	610127
TPP1	Ceroid lipofuscinosis, neuronal, 2	204500
CLN3	Ceroid lipofuscinosis, neuronal, 3	204200
CLN5	Ceroid lipofuscinosis, neuronal, 5	256731
CLN6	Ceroid lipofuscinosis, neuronal, 6	601780
MFSD8	Ceroid lipofuscinosis, neuronal, 7	610951
CLN8	Ceroid lipofuscinosis, neuronal, 8	600143
MTMR2	Charcot-Marie-Tooth disease, type 4B1	601382
SH3TC2	Charcot-Marie-Tooth disease, type 4C	601596
NDRG1	Charcot-Marie-Tooth disease, type 4D	601455
GDAP1	Charcot-Marie-Tooth Neuropathy Type 4A	214400
ABCB11	Cholestasis, benign recurrent intrahepatic, 2	601847
ARSF	Chondrodysplasia punctata, X-linked recessive	302950
ARSE	Chondrodysplasia punctata, X-linked recessive	302950
ASS1	Citrullinemia	215700
SLC25A13	Citrullinemia, adult-onset type II; type II, neonatal-onset	603471; 605814
RPS6KA3	Coffin-Lowry syndrome	303600
ACSF3	Combined malonic and methylmalonic acidemia	614265
ABCA4	Cone-rod dystrophy 3	604116
AIPL1	Cone-rod dystrophy, 604393 (Congenital Leber Amaurosis, 4)	604393
RPGR	Cone-rod dystrophy, X-linked, 1	304020
PMM2	Congenital disorder of glycosylation, type Ia	212065
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4	613268
CPT1A	CPT deficiency, hepatic, type IA	255120
CPT2	CPT II deficiency, lethal neonatal	608836
CTH	Cystathioninuria	219500
CFTR	Cystic Fibrosis; Congenital bilateral absence of vas deferens	219700; 277180
CTNS	Cystinosis, atypical nephropathic	219800
SLC3A1	Cystinuria	220100
SLC7A9	Cystinuria	220100
CDH23	Deafness, autosomal recessive 12	601386
USH1C	Deafness, autosomal recessive 18A	602092
GJB2	Deafness, autosoma recessive 1A; DFNB1A	220290
PCDH15	Deafness, autosomal recessive 23	609533
SLC26A4	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	600791
GJB3	Deafness, digenic, GJB2/GJB3	220290
POU3F4	Deafness, X-linked 2	304400
OCRL	Dent disease 2	300555
DLD	Dihydrolipoamide dehydrogenase deficiency	246900
F2	Dysprothrombinemia	613679
COL7A1	EBD inversa	226600
PLOD1	Ehlers-Danlos syndrome, type VI	225400
EVC2	Ellis-van Creveld syndrome	225500
SERPINA1	Emphysema due to AAT deficiency	613490
LAMB3	Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type	226700; 226650
LAMC2	Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type	226700; 226650
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	300491
ARX	Epileptic encephalopathy, early infantile, 1	308350
ETHE1	Ethylmalonic encephalopathy	602473
GLA	Fabry disease	301500
F5	Factor V deficiency	227400
F11	Factor XI deficiency, autosomal dominant & recessive	612416
MEFV	Familial Mediterranean fever, AR	249100
FANCA	Fanconi anemia	227650
FANCC	Fanconi anemia, complementation group C	227645
G6PD	Favism	134700
SLC46A1	Folate malabsorption, hereditary	229050
FMR1	Fragile X syndrome	300624
FXN	Friedreich ataxia with retained reflexes	229300
ALDOB	Fructose intolerance	229600
FH	Fumarase deficiency	606812
GALK1	Galactokinase deficiency with cataracts	230200
GALE	Galactose epimerase deficiency	230350
GALT	Galactosemia	230400
GBA	Gaucher disease, perinatal lethal	608013
FTCD	Glutamate formiminotransferase deficiency	229100
ETFA	Glutaric acidemia IIA	231680
ETFB	Glutaric acidemia IIB	231680
ETFDH	Glutaric acidemia IIC	231680
GCDH	Glutaricaciduria, type I	231670
GLDC	Glycine encephalopathy	605899
AMT	Glycine encephalopathy	605899
GNMT	Glycine N-methyltransferase deficiency	606664
G6PC	Glycogen storage disease Ia	232200
SLC37A4	Glycogen storage disease Ib	232220
GAA	Glycogen storage disease II / Pompe Disease	232300
AGL	Glycogen storage disease IIIa	232400
GBE1	Glycogen storage disease IV	232500
GLB1	GM1-gangliosidosis, types I, II and III	230500; 230600; 230650
NR2E3	Goldmann-Favre syndrome	268100
PANK2	HARP syndrome	607236
SLC6A19	Hartnup disorder	234500
PEX6	Heimler syndrome, type 2	616617
TFR2	Hemochromatosis, type 3	604250
HFE2	Hemochromatosis: Type 2A; HFE2 Related	602390
F8	Hemophilia A	306700
F9	Hemophilia B	306900
HAL	Histidinemia	235800
HMGCL	HMG-CoA lyase deficiency	246450
HLCS	Holocarboxylase synthetase deficiency	253270
MTHFR	Homocystinuria due to MTHFR deficiency	236250
MTRR	Homocystinuria-megaloblastic anemia, cbl E type	236270
CBS	Homocystinuria, B6-responsive and nonresponsive types	236200
MMADHC	Homocystinuria, cblD type, variant 1 / Methylmalonic aciduria and homocystinuria, cblD type / Methylmalonic aciduria, cblD type, variant 2	277410
MVK	Hyper-IgD syndrome; Mevalonic aciduria	260920; 610377
LDLR	Hypercholesterolemia, familial	143890
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive	603813
KCNJ11	Hyperinsulinemic hypoglycemia, familial, Type 2	601820
ADK	Hypermethioninemia due to adenosine kinase deficiency	614300
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	613752
MAT1A	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency	250850
AGXT	Hyperoxaluria, primary, type 1	259900
GRHPR	Hyperoxaluria, primary, type II	260000
HOGA1	Hyperoxaluria, primary, type III	613616
PTS	Hyperphenylalaninemia, BH4-deficient, A	261640
QDPR	Hyperphenylalaninemia, BH4-deficient, C	261630
PCBD1	Hyperphenylalaninemia, BH4-deficient, D	264070
ALDH4A1	Hyperprolinemia, type II	239510
TSHR	Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1	603373; 275200
GNRHR	Hypogonadotropic hypogonadism 7 without anosmia	146110
TSHB	Hypothryoidism, congenital, nongoitrous 4	275100
PAX8	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	218700
TGM1	Ichthyosis, congenital, autosomal recessive 1	242300
CD40LG	Immunodeficiency, X-linked, with hyper-IgM	308230
IVD	Isovaleric acidemia	243500
TMEM216	Joubert syndrome 2	608091
AHI1	Joubert syndrome 3	608629
NPHP1	Joubert syndrome 4	609583
ARL13B	Joubert syndrome 8	612291
GALC	Krabbe disease	245200
HADHA	LCHAD deficiency	609016
GUCY2D	Leber congenital amaurosis	204000
RDH12	Leber congenital amaurosis 13	612712
RPE65	Leber congenital amaurosis 2	204100
CRB1	Leber congenital amaurosis 8	613835
SURF1	Leigh syndrome, due to COX deficiency	256000
LRPPRC	Leigh syndrome, French-Canadian type	220111
DYSF	limb-girdle muscular dystrophy type 2B	253601
STAR	Lipoid adrenal hyperplasia	201710
DCX	Lissencephaly, X-linked	300067
CHST6	Macular corneal dystrophy	217800
MLYCD	Malonyl-CoA decarboxylase deficiency	248360
MAN2B1	Mannosidosis, alpha-, types I and II	248500
BCKDHA	Maple syrup urine disease, type Ia	248600
BCKDHB	Maple syrup urine disease, type Ib	248600
DBT	Maple syrup urine disease, type II	248600
L1CAM	MASA syndrome / CRASH syndrome	303350
PYGM	McArdle disease	232600
MKS1	Meckel syndrome 1	249000
CASK	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749
PHF8	Mental retardation syndrome, X-linked, Siderius type	300263
OPHN1	Mental retardation, X-linked	300486
IQSEC2	Mental retardation, X-linked 1/78	309530
THOC2	Mental retardation, X-linked 12/35	300957
IL1RAPL1	Mental retardation, X-linked 21/34	300143
PAK3	Mental retardation, X-linked 30/47	300558
GDI1	Mental retardation, X-linked 41	300849
TSPAN7	Mental retardation, X-linked 58	300210
ACSL4	Mental retardation, X-linked 63	300387
FTSJ1	Mental retardation, X-linked 9	309549
DLG3	Mental retardation, X-linked 90	300850
GRIA3	Mental retardation, X-linked 94	300699
ZNF711	Mental retardation, X-linked 97	300803
USP9X	Mental retardation, X-linked 99	300919
AP1S2	Mental retardation, X-linked syndromic 5	304340
ZDHHC9	Mental retardation, X-linked syndromic, Raymond type	300799
HUWE1	Mental retardation, X-linked syndromic, Turner type	300706
NLGN4X	Mental retardation, X-linked, Asperger syndrome susceptibility, X-linked	300427
AFF2	Mental retardation, X-linked, FRAXE type	309548
MECP2	Mental retardation, X-linked, syndromic 13	300055
UPF3B	Mental retardation, X-linked, syndromic 14	300676
CUL4B	Mental retardation, X-linked, syndromic 15	300354
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type	300534
ARSA	Metachromatic leukodystrophy	250100
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	277400
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type	277380
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type	614857
MUT	Methylmalonic aciduria, mut(0) type	251000
MMAA	Methylmalonic aciduria, vitamin B12-responsive	251100
MMAB	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	251110
MCEE	Methylmalonyl-CoA epimerase deficiency	251120
RAX	Microphthalmia, isolated 3	611038
GNPTAB	Mucolipidosis II and III, alpha/beta	252500; 252600
MCOLN1	Mucolipidosis IV	252650
SGSH	Mucopolysaccharidisis type IIIA (Sanfilippo A)	252900
IDUA	Mucopolysaccharidosis Ih	607014
IDS	Mucopolysaccharidosis II	309900
GALNS	Mucopolysaccharidosis IVA	253000
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B)	252920
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo C)	252930
GNS	Mucopolysaccharidosis type IIID	252940
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	253200
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	236670
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	613150
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	253280
FKRP	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	613153
CAPN3	Muscular dystrophy, limb-girdle, type 2A	253600
SGCA	Muscular dystrophy, limb-girdle, type 2D	608099
SGCB	Muscular dystrophy, limb-girdle, type 2E	604286
CLCN1	Myotonia congenita, dominant; recessive	160800; 255700
NEB	Nemaline myopathy 2, autosomal recessive	256030
NPHS1	Nephrotic syndrome, type 1	256300
HAX1	Neutropenia, severe congenital 3, autosomal recessive	610738
SMPD1	Niemann-Pick disease, type A	257200
NPC1	Niemann-Pick disease, type C1	257220
NPC2	Niemann-pick disease, type C2	607625
NBN	Nijmegen Breakage Syndrome (Ataxia telangectasia, type 1)	251260
NDP	Norrie disease	310600
GPR143	Nystagmus 6, congenital, X-linked	300814
OTC	Ornithine transcarbamylase deficiency	311250
P3H1	Osteogenesis imperfecta, type VIII	610915
PLP1	Pelizaeus-Merzbacher disease	312080
ACOX1	Peroxisomal acyl-CoA oxidase deficiency	264470
PEX1	Peroxisome biogenesis disorder 1A (Zellweger)	214100
PEX10	Peroxisome biogenesis disorder 6A (Zellweger)	614870
PEX7	Peroxisome biogenesis disorder 9B; Rhizomelic chondroplasia punctata, type I	614879; 215100
PAH	Phenylketonuria	261600
PGK1	Phosphoglycerate kinase 1 deficiency	300653
PROP1	Pituitary hormone deficiency, combined, 2	262600
PKHD1	Polycystic kidney and hepatic disease	263200
DNAH5	Primary ciliary dyskinesia	608644
PCCA	Propionic acidemia	606054
PCCB	Propionic acidemia	606054
PC	Pyruvate carboxylase deficiency	266150
PDHB	Pyruvate dehydrogenase E1-beta deficiency	614111
PQBP1	Renpenning syndrome	309500
RP2	Retinitis pigmentosa 2	312600
EYS	Retinitis pigmentosa 25	602772
CERKL	Retinitis pigmentosa 26	608380
USH2A	Retinitis pigmentosa 39	613809
PDE6A	Retinitis pigmentosa 43	613810
CNGB1	Retinitis pigmentosa 45	613767
IDH3B	Retinitis pigmentosa 46	612572
CNGA1	Retinitis pigmentosa 49	613756
DHDDS	Retinitis pigmentosa 59	613861
RS1	Retinoschisis	312700
AGPS	Rhizomelic chondrodysplasia punctata, type 3	600121
HEXB	Sandhoff disease, infantile, juvenile, and adult forms	268800
JAK3	SCID, autosomal recessive, T-negative/B-positive type	600802
TH	Segawa syndrome, recessive	605407
ADA	Severe combined immunodeficiency due to ADA deficiency	102700
IL2RG	Severe combined immunodeficiency, X-linked	300400
DHCR7	Smith-Lemli-Opitz syndrome	270400
SACS	Spastic ataxia, Charlevoix-Saguenay type	270550
SPG11	Spastic paraplegia 11, autosomal recessive	604360
SPG7	Spastic paraplegia 7, autosomal recessive	607259
SMN1	Spinal muscular atrophy, type I	253300
HEXA	Tay-Sachs; GM2-gangliosidosis, several forms	272800
HBB	Thalassemia, beta	613985
HBA1	Thalassemias, alpha-	604131
HBA2	Thalassemias, alpha-	604131
MPL	Thrombocytopenia, congenital amegakaryocytic	604498
DUOX2	Thryoid dyshormonogenesis 6	607200
SLC5A5	Thyroid dyshormonogenesis 1	274400
TPO	Thyroid dyshormonogenesis 2A	274500
TG	Thyroid dyshormonogenesis 3	274700
IYD	Thyroid dyshormonogenesis 4	274800
DUOXA2	Thyroid dyshormonogenesis 5	274900
THRB	Thyroid hormone resistance	274700
POLR1C	Treacher Collins syndrome 3	248390
HADHB	Trifunctional protein deficiency	609015
FAH	Tyrosinemia, type I	276700
TAT	Tyrosinemia, type II	276600
MYO7A	Usher syndrome, type 1B; Deafness, autosomal dominant 11	276900; 601317
USH1G	Usher syndrome, type 1G	606943
WHRN	Usher syndrome, type 2D / Deafness, autosomal recessive 31	611383
CLRN1	Usher syndrome, type 3A	276902
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic, 2	611938
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441
ACADVL	VLCAD deficiency	201475
FKTN	Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	253800
ATP7B	Wilson disease	277900
LIPA	Wolman disease (lysosomal acid lipase deficiency)	278000
BRWD3	X-linked mental retardation (XLMR) associated with macrocephaly	300659

Solicita el test

qCarrier Plus®. Estudi de portadors avançat

Descripció
Gens
Sol·licitud

El qCarrier® Plus analitza la presència de mutacions en +300 gens responsables de malalties recessives i lligades al cromosoma X, prevalents a la nostra àrea geogràfica i en certs grups poblacionals.

A diferència d’altres tests, el qCarrier® Plus analitza la totalitat* de la seqüència codificant (exons) dels gens que captura, mitjançant tecnologia de seqüenciació massiva i altres tècniques moleculars. Aquesta aproximació té com a conseqüència dos avantatges clau d’aquest test:

permet identificar la presència de mutacions tant conegudes com altres que mai hagin estat descrites.
permet disminuir el risc residual al màxim, amb independència del background poblacional dels individus.

* Per alguns gens localitzats en regions complexes (amb pseudogens, en duplicacions segmentàries, …) no sempre és possible l’obtenció de la seqüència de tots els exons. El detall sobre cobertura s’inclou sempre en tots els informes que generem.

Tests complementaris que inclou el qCarrier® Plus:

X-fràgil (expansió de triplets a FMR1) – només en dones.
Atàxia de Friedreich (expansió de triplets a FXN1).
Inversió de l’intró 22 del factor VIII (F8) – només en dones.

Temps de resposta: 15 dies laborables d’ençà de la recepció de la mostra.

Gene	Associated Phenotype description	OMIM disease ID
HSD17B10	17-beta-hydroxysteroid dehydrogenase X deficiency	300438
ACADSB	2-methylbutyrylglycinuria	610006
MCCC1	3-Methylcrotonyl-CoA carboxylase 1 deficiency	210200
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency	210210
FGD1	Aarskog-Scott syndrome; Mental retardation, X-linked 16	305400
SLC26A2	Achondrogenesis Ib	600972
CNGB3	Achromatopsia-3	262300
ACADM	Acyl-CoA dehydrogenase, medium chain, deficiency of	201450
ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of	201470
CYP17A1	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	202110
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	201910
ABCD1	Adrenoleukodystrophy	300100
HGD	Alkaptonuria	203500
SLC16A2	Allan-Herndon-Dudley syndrome	300523
ACAT1	Alpha-methylacetoacetic aciduria	203750
ATRX	Alpha-thalassemia/mental retardation syndrome	301040
COL4A4	Alport syndrome, autosomal recessive	203780
RMRP	Anauxetic dysplasia	607095
AR	Androgen insensitivity	300068
ARG1	Argininemia	207800
ASL	Argininosuccinic aciduria	207900
PRPS1	Arts syndrome	301835
AGA	Aspartylglucosaminuria	208400
TTPA	Ataxia with isolated vitamin E deficiency	277460
ATM	Ataxia-telangiectasia	208900
OTOF	Auditory neuropathy, autosomal recessive, 1	601071
AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia	240300
BBS1	Bardet-Biedl syndrome 1	209900
BBS10	Bardet-Biedl syndrome 10	615987
CEP290	Bardet-Biedl syndrome 14; Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6	615991; 610188; 611134; 610189
BBS2	Bardet-Biedl syndrome 2	615981
BSND	Bartter syndrome, type 4a	602522
DMD	Duchenne muscular dystrophy; Becker muscular dystrophy	310200; 300376
BTD	Biotinidase deficiency	253260
BCS1L	Bjornstad syndrome	262000
ASPA	Canavan disease	271900
CPS1	Carbamoylphosphate synthetase I deficiency	237300
SLC22A5	Carnitine deficiency, systemic primary	212140
SLC25A20	Carnitine-acylcarnitine translocase deficiency	212138
CYP27A1	Cerebrotendinous xanthomatosis	213700
PPT1	Ceroid lipofuscinosis, neuronal, 1	256730
CTSD	Ceroid lipofuscinosis, neuronal, 10	610127
TPP1	Ceroid lipofuscinosis, neuronal, 2	204500
CLN3	Ceroid lipofuscinosis, neuronal, 3	204200
CLN5	Ceroid lipofuscinosis, neuronal, 5	256731
CLN6	Ceroid lipofuscinosis, neuronal, 6	601780
MFSD8	Ceroid lipofuscinosis, neuronal, 7	610951
CLN8	Ceroid lipofuscinosis, neuronal, 8	600143
MTMR2	Charcot-Marie-Tooth disease, type 4B1	601382
SH3TC2	Charcot-Marie-Tooth disease, type 4C	601596
NDRG1	Charcot-Marie-Tooth disease, type 4D	601455
GDAP1	Charcot-Marie-Tooth Neuropathy Type 4A	214400
ABCB11	Cholestasis, benign recurrent intrahepatic, 2	601847
ARSF	Chondrodysplasia punctata, X-linked recessive	302950
ARSE	Chondrodysplasia punctata, X-linked recessive	302950
ASS1	Citrullinemia	215700
SLC25A13	Citrullinemia, adult-onset type II; type II, neonatal-onset	603471; 605814
RPS6KA3	Coffin-Lowry syndrome	303600
ACSF3	Combined malonic and methylmalonic acidemia	614265
ABCA4	Cone-rod dystrophy 3	604116
AIPL1	Cone-rod dystrophy, 604393 (Congenital Leber Amaurosis, 4)	604393
RPGR	Cone-rod dystrophy, X-linked, 1	304020
PMM2	Congenital disorder of glycosylation, type Ia	212065
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4	613268
CPT1A	CPT deficiency, hepatic, type IA	255120
CPT2	CPT II deficiency, lethal neonatal	608836
CTH	Cystathioninuria	219500
CFTR	Cystic Fibrosis; Congenital bilateral absence of vas deferens	219700; 277180
CTNS	Cystinosis, atypical nephropathic	219800
SLC3A1	Cystinuria	220100
SLC7A9	Cystinuria	220100
CDH23	Deafness, autosomal recessive 12	601386
USH1C	Deafness, autosomal recessive 18A	602092
GJB2	Deafness, autosoma recessive 1A; DFNB1A	220290
PCDH15	Deafness, autosomal recessive 23	609533
SLC26A4	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	600791
GJB3	Deafness, digenic, GJB2/GJB3	220290
POU3F4	Deafness, X-linked 2	304400
OCRL	Dent disease 2	300555
DLD	Dihydrolipoamide dehydrogenase deficiency	246900
F2	Dysprothrombinemia	613679
COL7A1	EBD inversa	226600
PLOD1	Ehlers-Danlos syndrome, type VI	225400
EVC2	Ellis-van Creveld syndrome	225500
SERPINA1	Emphysema due to AAT deficiency	613490
LAMB3	Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type	226700; 226650
LAMC2	Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type	226700; 226650
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	300491
ARX	Epileptic encephalopathy, early infantile, 1	308350
ETHE1	Ethylmalonic encephalopathy	602473
GLA	Fabry disease	301500
F5	Factor V deficiency	227400
F11	Factor XI deficiency, autosomal dominant & recessive	612416
MEFV	Familial Mediterranean fever, AR	249100
FANCA	Fanconi anemia	227650
FANCC	Fanconi anemia, complementation group C	227645
G6PD	Favism	134700
SLC46A1	Folate malabsorption, hereditary	229050
FMR1	Fragile X syndrome	300624
FXN	Friedreich ataxia with retained reflexes	229300
ALDOB	Fructose intolerance	229600
FH	Fumarase deficiency	606812
GALK1	Galactokinase deficiency with cataracts	230200
GALE	Galactose epimerase deficiency	230350
GALT	Galactosemia	230400
GBA	Gaucher disease, perinatal lethal	608013
FTCD	Glutamate formiminotransferase deficiency	229100
ETFA	Glutaric acidemia IIA	231680
ETFB	Glutaric acidemia IIB	231680
ETFDH	Glutaric acidemia IIC	231680
GCDH	Glutaricaciduria, type I	231670
GLDC	Glycine encephalopathy	605899
AMT	Glycine encephalopathy	605899
GNMT	Glycine N-methyltransferase deficiency	606664
G6PC	Glycogen storage disease Ia	232200
SLC37A4	Glycogen storage disease Ib	232220
GAA	Glycogen storage disease II / Pompe Disease	232300
AGL	Glycogen storage disease IIIa	232400
GBE1	Glycogen storage disease IV	232500
GLB1	GM1-gangliosidosis, types I, II and III	230500; 230600; 230650
NR2E3	Goldmann-Favre syndrome	268100
PANK2	HARP syndrome	607236
SLC6A19	Hartnup disorder	234500
PEX6	Heimler syndrome, type 2	616617
TFR2	Hemochromatosis, type 3	604250
HFE2	Hemochromatosis: Type 2A; HFE2 Related	602390
F8	Hemophilia A	306700
F9	Hemophilia B	306900
HAL	Histidinemia	235800
HMGCL	HMG-CoA lyase deficiency	246450
HLCS	Holocarboxylase synthetase deficiency	253270
MTHFR	Homocystinuria due to MTHFR deficiency	236250
MTRR	Homocystinuria-megaloblastic anemia, cbl E type	236270
CBS	Homocystinuria, B6-responsive and nonresponsive types	236200
MMADHC	Homocystinuria, cblD type, variant 1 / Methylmalonic aciduria and homocystinuria, cblD type / Methylmalonic aciduria, cblD type, variant 2	277410
MVK	Hyper-IgD syndrome; Mevalonic aciduria	260920; 610377
LDLR	Hypercholesterolemia, familial	143890
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive	603813
KCNJ11	Hyperinsulinemic hypoglycemia, familial, Type 2	601820
ADK	Hypermethioninemia due to adenosine kinase deficiency	614300
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	613752
MAT1A	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency	250850
AGXT	Hyperoxaluria, primary, type 1	259900
GRHPR	Hyperoxaluria, primary, type II	260000
HOGA1	Hyperoxaluria, primary, type III	613616
PTS	Hyperphenylalaninemia, BH4-deficient, A	261640
QDPR	Hyperphenylalaninemia, BH4-deficient, C	261630
PCBD1	Hyperphenylalaninemia, BH4-deficient, D	264070
ALDH4A1	Hyperprolinemia, type II	239510
TSHR	Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1	603373; 275200
GNRHR	Hypogonadotropic hypogonadism 7 without anosmia	146110
TSHB	Hypothryoidism, congenital, nongoitrous 4	275100
PAX8	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	218700
TGM1	Ichthyosis, congenital, autosomal recessive 1	242300
CD40LG	Immunodeficiency, X-linked, with hyper-IgM	308230
IVD	Isovaleric acidemia	243500
TMEM216	Joubert syndrome 2	608091
AHI1	Joubert syndrome 3	608629
NPHP1	Joubert syndrome 4	609583
ARL13B	Joubert syndrome 8	612291
GALC	Krabbe disease	245200
HADHA	LCHAD deficiency	609016
GUCY2D	Leber congenital amaurosis	204000
RDH12	Leber congenital amaurosis 13	612712
RPE65	Leber congenital amaurosis 2	204100
CRB1	Leber congenital amaurosis 8	613835
SURF1	Leigh syndrome, due to COX deficiency	256000
LRPPRC	Leigh syndrome, French-Canadian type	220111
DYSF	limb-girdle muscular dystrophy type 2B	253601
STAR	Lipoid adrenal hyperplasia	201710
DCX	Lissencephaly, X-linked	300067
CHST6	Macular corneal dystrophy	217800
MLYCD	Malonyl-CoA decarboxylase deficiency	248360
MAN2B1	Mannosidosis, alpha-, types I and II	248500
BCKDHA	Maple syrup urine disease, type Ia	248600
BCKDHB	Maple syrup urine disease, type Ib	248600
DBT	Maple syrup urine disease, type II	248600
L1CAM	MASA syndrome / CRASH syndrome	303350
PYGM	McArdle disease	232600
MKS1	Meckel syndrome 1	249000
CASK	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749
PHF8	Mental retardation syndrome, X-linked, Siderius type	300263
OPHN1	Mental retardation, X-linked	300486
IQSEC2	Mental retardation, X-linked 1/78	309530
THOC2	Mental retardation, X-linked 12/35	300957
IL1RAPL1	Mental retardation, X-linked 21/34	300143
PAK3	Mental retardation, X-linked 30/47	300558
GDI1	Mental retardation, X-linked 41	300849
TSPAN7	Mental retardation, X-linked 58	300210
ACSL4	Mental retardation, X-linked 63	300387
FTSJ1	Mental retardation, X-linked 9	309549
DLG3	Mental retardation, X-linked 90	300850
GRIA3	Mental retardation, X-linked 94	300699
ZNF711	Mental retardation, X-linked 97	300803
USP9X	Mental retardation, X-linked 99	300919
AP1S2	Mental retardation, X-linked syndromic 5	304340
ZDHHC9	Mental retardation, X-linked syndromic, Raymond type	300799
HUWE1	Mental retardation, X-linked syndromic, Turner type	300706
NLGN4X	Mental retardation, X-linked, Asperger syndrome susceptibility, X-linked	300427
AFF2	Mental retardation, X-linked, FRAXE type	309548
MECP2	Mental retardation, X-linked, syndromic 13	300055
UPF3B	Mental retardation, X-linked, syndromic 14	300676
CUL4B	Mental retardation, X-linked, syndromic 15	300354
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type	300534
ARSA	Metachromatic leukodystrophy	250100
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	277400
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type	277380
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type	614857
MUT	Methylmalonic aciduria, mut(0) type	251000
MMAA	Methylmalonic aciduria, vitamin B12-responsive	251100
MMAB	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	251110
MCEE	Methylmalonyl-CoA epimerase deficiency	251120
RAX	Microphthalmia, isolated 3	611038
GNPTAB	Mucolipidosis II and III, alpha/beta	252500; 252600
MCOLN1	Mucolipidosis IV	252650
SGSH	Mucopolysaccharidisis type IIIA (Sanfilippo A)	252900
IDUA	Mucopolysaccharidosis Ih	607014
IDS	Mucopolysaccharidosis II	309900
GALNS	Mucopolysaccharidosis IVA	253000
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B)	252920
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo C)	252930
GNS	Mucopolysaccharidosis type IIID	252940
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	253200
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	236670
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	613150
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	253280
FKRP	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	613153
CAPN3	Muscular dystrophy, limb-girdle, type 2A	253600
SGCA	Muscular dystrophy, limb-girdle, type 2D	608099
SGCB	Muscular dystrophy, limb-girdle, type 2E	604286
CLCN1	Myotonia congenita, dominant; recessive	160800; 255700
NEB	Nemaline myopathy 2, autosomal recessive	256030
NPHS1	Nephrotic syndrome, type 1	256300
HAX1	Neutropenia, severe congenital 3, autosomal recessive	610738
SMPD1	Niemann-Pick disease, type A	257200
NPC1	Niemann-Pick disease, type C1	257220
NPC2	Niemann-pick disease, type C2	607625
NBN	Nijmegen Breakage Syndrome (Ataxia telangectasia, type 1)	251260
NDP	Norrie disease	310600
GPR143	Nystagmus 6, congenital, X-linked	300814
OTC	Ornithine transcarbamylase deficiency	311250
P3H1	Osteogenesis imperfecta, type VIII	610915
PLP1	Pelizaeus-Merzbacher disease	312080
ACOX1	Peroxisomal acyl-CoA oxidase deficiency	264470
PEX1	Peroxisome biogenesis disorder 1A (Zellweger)	214100
PEX10	Peroxisome biogenesis disorder 6A (Zellweger)	614870
PEX7	Peroxisome biogenesis disorder 9B; Rhizomelic chondroplasia punctata, type I	614879; 215100
PAH	Phenylketonuria	261600
PGK1	Phosphoglycerate kinase 1 deficiency	300653
PROP1	Pituitary hormone deficiency, combined, 2	262600
PKHD1	Polycystic kidney and hepatic disease	263200
DNAH5	Primary ciliary dyskinesia	608644
PCCA	Propionic acidemia	606054
PCCB	Propionic acidemia	606054
PC	Pyruvate carboxylase deficiency	266150
PDHB	Pyruvate dehydrogenase E1-beta deficiency	614111
PQBP1	Renpenning syndrome	309500
RP2	Retinitis pigmentosa 2	312600
EYS	Retinitis pigmentosa 25	602772
CERKL	Retinitis pigmentosa 26	608380
USH2A	Retinitis pigmentosa 39	613809
PDE6A	Retinitis pigmentosa 43	613810
CNGB1	Retinitis pigmentosa 45	613767
IDH3B	Retinitis pigmentosa 46	612572
CNGA1	Retinitis pigmentosa 49	613756
DHDDS	Retinitis pigmentosa 59	613861
RS1	Retinoschisis	312700
AGPS	Rhizomelic chondrodysplasia punctata, type 3	600121
HEXB	Sandhoff disease, infantile, juvenile, and adult forms	268800
JAK3	SCID, autosomal recessive, T-negative/B-positive type	600802
TH	Segawa syndrome, recessive	605407
ADA	Severe combined immunodeficiency due to ADA deficiency	102700
IL2RG	Severe combined immunodeficiency, X-linked	300400
DHCR7	Smith-Lemli-Opitz syndrome	270400
SACS	Spastic ataxia, Charlevoix-Saguenay type	270550
SPG11	Spastic paraplegia 11, autosomal recessive	604360
SPG7	Spastic paraplegia 7, autosomal recessive	607259
SMN1	Spinal muscular atrophy, type I	253300
HEXA	Tay-Sachs; GM2-gangliosidosis, several forms	272800
HBB	Thalassemia, beta	613985
HBA1	Thalassemias, alpha-	604131
HBA2	Thalassemias, alpha-	604131
MPL	Thrombocytopenia, congenital amegakaryocytic	604498
DUOX2	Thryoid dyshormonogenesis 6	607200
SLC5A5	Thyroid dyshormonogenesis 1	274400
TPO	Thyroid dyshormonogenesis 2A	274500
TG	Thyroid dyshormonogenesis 3	274700
IYD	Thyroid dyshormonogenesis 4	274800
DUOXA2	Thyroid dyshormonogenesis 5	274900
THRB	Thyroid hormone resistance	274700
POLR1C	Treacher Collins syndrome 3	248390
HADHB	Trifunctional protein deficiency	609015
FAH	Tyrosinemia, type I	276700
TAT	Tyrosinemia, type II	276600
MYO7A	Usher syndrome, type 1B; Deafness, autosomal dominant 11	276900; 601317
USH1G	Usher syndrome, type 1G	606943
WHRN	Usher syndrome, type 2D / Deafness, autosomal recessive 31	611383
CLRN1	Usher syndrome, type 3A	276902
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic, 2	611938
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	615441
ACADVL	VLCAD deficiency	201475
FKTN	Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	253800
ATP7B	Wilson disease	277900
LIPA	Wolman disease (lysosomal acid lipase deficiency)	278000
BRWD3	X-linked mental retardation (XLMR) associated with macrocephaly	300659

Descarrega el consentiment informat AQUÍ

El test pot demanar-se des de la Plataforma de Comandes, o bé descarregant el Full de Sol·licitud.

Accedeix a la plataforma de comandes Comanda sense plataforma

Com demano un test?

1) Emplenar la sol·licitud del test.

Necessitem la informació del metge sol·licitant, les dades del pacient (especialment l’identificador de la mostra, la data de naixement i el sexe), i per descomptat seleccionar el test que se sol·licita.

La resta de camps també són importants, així que si disposes de la informació, ens serà de gran utilitat.

2) Imprimir el full de sol·licitud.

Una vegada emplenat a l’ordinador, s’ha d’imprimir i signar per part del metge sol·licitant.

3) Obtenir la mostra biològica.

És important recordar que les mostres han d’anar identificades amb el mateix identificador o nom indicat al Full de Sol·licitud.

4) Preparar la mostra de manera adequada per al seu enviament.

Embalar la mostra biològica de manera adequada i adjuntar el Full de Sol·licitud.

No oblidi incloure una còpia del document de consentiment informat, signat pel pacient o els seus representants legals.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

L’adreça d’enviament és:

Quantitative Genomic Medicine Laboratories (qGenomics)
c/Joan XXIII, 10
08950 – Esplugues del Llobregat

Requisits de les mostres biològiques

DNA: >5ug, a una concentració mínima de 50ng/uL, i de bona qualitat (ratio 260/280 >1.8).

Sang en EDTA: 1 tub de 3-5mL (nens, mínim 1mL de sang).

Sang en paper: un mínim de 10 spots en targeta Guthrie o paper de filtre.

Alternativament es pot demanar a qGenomics un kit de recollida de saliva o de cèl·lules bucals.

Preparació per a l'enviament

Les mostres biològiques com la sang, la saliva o altres fluïds corporals són considerades mostres biològiques de categoria B, mentre que l’ADN es pot considerar un “Especimen humà exent”. Pots llegir aquí com han d’anar acondicionades.

La sang recollida en un tub d’EDTA, l’ADN, la saliva recollida en els contenidors especials que proporcionem, i la sang en paper, són estables a temperatura ambient durant 3 o 4 dies. Les mostres poden enviar-se, convenientment protegides, per correu ordinari o missatger.

Portadors qCarrier Plus

qCarrier Plus®. Estudi de portadors avançat

Tests complementaris que inclou el qCarrier® Plus:

1) Emplenar la sol·licitud del test.

2) Imprimir el full de sol·licitud.

3) Obtenir la mostra biològica.

4) Preparar la mostra de manera adequada per al seu enviament.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

Truca’ns al 932 301 270 quan ho tinguis tot preparat i passarem a recollir les teves mostres.

Array prenatal

Array restos abortivos

Portadors qCarrier Plus

Prenatal no-invasivo

Test de malalties recessives

“Calidad” en las pruebas de detección de Covid-19

El test más rápido para detectar COVID-19 es la RT-PCR

Acreditación ENAC – ISO 15189

Tel. 932 301 270