qCarrier Plus®. Estudio de portadores avanzado

qCarrier® Plus analyzes the presence of mutations in genes responsible for recessive diseases and diseases linked to the X chromosome, prevalent in our geographical area and its corresponding population groups.

qCarrier® Plus analyzes the carrier status of 307 genes by complete NGS analysis. This group of genes covers all recessive diseases with a prevalence higher than 1 in 1 million.

High number of genes linked to the X chromosome (57), associated with multiple forms of mental retardation among other diseases.

The entire coding sequence (exons) of these genes is captured and analyzed by NGS*. This approach results in 2 key advantages of the tests: It allows the identification of the presence of both known mutations and as well as others that may have not been previously described. This significantly reduces residual risk, especially in these cases where no recurrent mutations have been described.

* For some genes located in complex regions (repetitions, segmental duplications, …) it may not be possible to obtain the sequence of all exons. Detailed information is given the corresponding clinical reports.

Additional tests included:
  • Fragile-X (triplet expansion in FMR1) – only in females.
  • Friedreich Ataxia (triplet expansion in FXN1).
  • F8 intron 22 inversion – only in females.

Turn-around time: 15 working days from sample reception.

GeneAssociated Phenotype descriptionOMIM disease ID
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency300438
ACADSB2-methylbutyrylglycinuria610006
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiency210200
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiency210210
FGD1Aarskog-Scott syndrome; Mental retardation, X-linked 16305400
SLC26A2Achondrogenesis Ib600972
CNGB3Achromatopsia-3262300
ACADMAcyl-CoA dehydrogenase, medium chain, deficiency of201450
ACADSAcyl-CoA dehydrogenase, short-chain, deficiency of201470
CYP17A1Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency202110
CYP21A2Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency201910
ABCD1Adrenoleukodystrophy300100
HGDAlkaptonuria203500
SLC16A2Allan-Herndon-Dudley syndrome300523
ACAT1Alpha-methylacetoacetic aciduria203750
ATRXAlpha-thalassemia/mental retardation syndrome301040
COL4A4Alport syndrome, autosomal recessive203780
RMRPAnauxetic dysplasia607095
ARAndrogen insensitivity300068
ARG1Argininemia207800
ASLArgininosuccinic aciduria207900
PRPS1Arts syndrome301835
AGAAspartylglucosaminuria208400
TTPAAtaxia with isolated vitamin E deficiency277460
ATMAtaxia-telangiectasia208900
OTOFAuditory neuropathy, autosomal recessive, 1601071
AIREAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia240300
BBS1Bardet-Biedl syndrome 1209900
BBS10Bardet-Biedl syndrome 10615987
CEP290Bardet-Biedl syndrome 14; Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6615991; 610188; 611134; 610189
BBS2Bardet-Biedl syndrome 2615981
BSNDBartter syndrome, type 4a602522
DMDDuchenne muscular dystrophy; Becker muscular dystrophy310200; 300376
BTDBiotinidase deficiency253260
BCS1LBjornstad syndrome262000
ASPACanavan disease271900
CPS1Carbamoylphosphate synthetase I deficiency237300
SLC22A5Carnitine deficiency, systemic primary212140
SLC25A20Carnitine-acylcarnitine translocase deficiency212138
CYP27A1Cerebrotendinous xanthomatosis213700
PPT1Ceroid lipofuscinosis, neuronal, 1256730
CTSDCeroid lipofuscinosis, neuronal, 10610127
TPP1Ceroid lipofuscinosis, neuronal, 2204500
CLN3Ceroid lipofuscinosis, neuronal, 3204200
CLN5Ceroid lipofuscinosis, neuronal, 5256731
CLN6Ceroid lipofuscinosis, neuronal, 6601780
MFSD8Ceroid lipofuscinosis, neuronal, 7610951
CLN8Ceroid lipofuscinosis, neuronal, 8600143
MTMR2Charcot-Marie-Tooth disease, type 4B1601382
SH3TC2Charcot-Marie-Tooth disease, type 4C601596
NDRG1Charcot-Marie-Tooth disease, type 4D601455
GDAP1Charcot-Marie-Tooth Neuropathy Type 4A214400
ABCB11Cholestasis, benign recurrent intrahepatic, 2601847
ARSFChondrodysplasia punctata, X-linked recessive302950
ARSEChondrodysplasia punctata, X-linked recessive302950
ASS1Citrullinemia215700
SLC25A13Citrullinemia, adult-onset type II; type II, neonatal-onset603471; 605814
RPS6KA3Coffin-Lowry syndrome303600
ACSF3Combined malonic and methylmalonic acidemia614265
ABCA4Cone-rod dystrophy 3604116
AIPL1Cone-rod dystrophy, 604393 (Congenital Leber Amaurosis, 4)604393
RPGRCone-rod dystrophy, X-linked, 1304020
PMM2Congenital disorder of glycosylation, type Ia212065
SLC4A11Corneal dystrophy, Fuchs endothelial, 4613268
CPT1ACPT deficiency, hepatic, type IA255120
CPT2CPT II deficiency, lethal neonatal608836
CTHCystathioninuria219500
CFTRCystic Fibrosis; Congenital bilateral absence of vas deferens219700; 277180
CTNSCystinosis, atypical nephropathic219800
SLC3A1Cystinuria220100
SLC7A9Cystinuria220100
CDH23Deafness, autosomal recessive 12601386
USH1CDeafness, autosomal recessive 18A602092
GJB2Deafness, autosoma recessive 1A; DFNB1A220290
PCDH15Deafness, autosomal recessive 23609533
SLC26A4Deafness, autosomal recessive 4, with enlarged vestibular aqueduct600791
GJB3Deafness, digenic, GJB2/GJB3220290
POU3F4Deafness, X-linked 2304400
OCRLDent disease 2300555
DLDDihydrolipoamide dehydrogenase deficiency246900
F2Dysprothrombinemia613679
COL7A1EBD inversa226600
PLOD1Ehlers-Danlos syndrome, type VI225400
EVC2Ellis-van Creveld syndrome225500
SERPINA1Emphysema due to AAT deficiency613490
LAMB3Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type226700; 226650
LAMC2Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type226700; 226650
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disorders300491
ARXEpileptic encephalopathy, early infantile, 1308350
ETHE1Ethylmalonic encephalopathy602473
GLAFabry disease301500
F5Factor V deficiency227400
F11Factor XI deficiency, autosomal dominant & recessive612416
MEFVFamilial Mediterranean fever, AR249100
FANCAFanconi anemia227650
FANCCFanconi anemia, complementation group C227645
G6PDFavism134700
SLC46A1Folate malabsorption, hereditary229050
FMR1Fragile X syndrome300624
FXNFriedreich ataxia with retained reflexes229300
ALDOBFructose intolerance229600
FHFumarase deficiency606812
GALK1Galactokinase deficiency with cataracts230200
GALEGalactose epimerase deficiency230350
GALTGalactosemia230400
GBAGaucher disease, perinatal lethal608013
FTCDGlutamate formiminotransferase deficiency229100
ETFAGlutaric acidemia IIA231680
ETFBGlutaric acidemia IIB231680
ETFDHGlutaric acidemia IIC231680
GCDHGlutaricaciduria, type I231670
GLDCGlycine encephalopathy605899
AMTGlycine encephalopathy605899
GNMTGlycine N-methyltransferase deficiency606664
G6PCGlycogen storage disease Ia232200
SLC37A4Glycogen storage disease Ib232220
GAAGlycogen storage disease II / Pompe Disease232300
AGLGlycogen storage disease IIIa232400
GBE1Glycogen storage disease IV232500
GLB1GM1-gangliosidosis, types I, II and III230500; 230600; 230650
NR2E3Goldmann-Favre syndrome268100
PANK2HARP syndrome607236
SLC6A19Hartnup disorder234500
PEX6Heimler syndrome, type 2616617
TFR2Hemochromatosis, type 3604250
HFE2Hemochromatosis: Type 2A; HFE2 Related602390
F8Hemophilia A306700
F9Hemophilia B306900
HALHistidinemia235800
HMGCLHMG-CoA lyase deficiency246450
HLCSHolocarboxylase synthetase deficiency253270
MTHFRHomocystinuria due to MTHFR deficiency236250
MTRRHomocystinuria-megaloblastic anemia, cbl E type236270
CBSHomocystinuria, B6-responsive and nonresponsive types236200
MMADHCHomocystinuria, cblD type, variant 1 / Methylmalonic aciduria and homocystinuria, cblD type / Methylmalonic aciduria, cblD type, variant 2277410
MVKHyper-IgD syndrome; Mevalonic aciduria260920; 610377
LDLRHypercholesterolemia, familial143890
LDLRAP1Hypercholesterolemia, familial, autosomal recessive603813
KCNJ11Hyperinsulinemic hypoglycemia, familial, Type 2601820
ADKHypermethioninemia due to adenosine kinase deficiency614300
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase613752
MAT1AHypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency250850
AGXTHyperoxaluria, primary, type 1259900
GRHPRHyperoxaluria, primary, type II260000
HOGA1Hyperoxaluria, primary, type III613616
PTSHyperphenylalaninemia, BH4-deficient, A261640
QDPRHyperphenylalaninemia, BH4-deficient, C261630
PCBD1Hyperphenylalaninemia, BH4-deficient, D264070
ALDH4A1Hyperprolinemia, type II239510
TSHRHyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1603373; 275200
GNRHRHypogonadotropic hypogonadism 7 without anosmia146110
TSHBHypothryoidism, congenital, nongoitrous 4275100
PAX8Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia218700
TGM1Ichthyosis, congenital, autosomal recessive 1242300
CD40LGImmunodeficiency, X-linked, with hyper-IgM308230
IVDIsovaleric acidemia243500
TMEM216Joubert syndrome 2608091
AHI1Joubert syndrome 3608629
NPHP1Joubert syndrome 4609583
ARL13BJoubert syndrome 8612291
GALCKrabbe disease245200
HADHALCHAD deficiency609016
GUCY2DLeber congenital amaurosis204000
RDH12Leber congenital amaurosis 13612712
RPE65Leber congenital amaurosis 2204100
CRB1Leber congenital amaurosis 8613835
SURF1Leigh syndrome, due to COX deficiency256000
LRPPRCLeigh syndrome, French-Canadian type220111
DYSFlimb-girdle muscular dystrophy type 2B253601
STARLipoid adrenal hyperplasia201710
DCXLissencephaly, X-linked300067
CHST6Macular corneal dystrophy217800
MLYCDMalonyl-CoA decarboxylase deficiency248360
MAN2B1Mannosidosis, alpha-, types I and II248500
BCKDHAMaple syrup urine disease, type Ia248600
BCKDHBMaple syrup urine disease, type Ib248600
DBTMaple syrup urine disease, type II248600
L1CAMMASA syndrome / CRASH syndrome303350
PYGMMcArdle disease232600
MKS1Meckel syndrome 1249000
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia300749
PHF8Mental retardation syndrome, X-linked, Siderius type300263
OPHN1Mental retardation, X-linked300486
IQSEC2Mental retardation, X-linked 1/78309530
THOC2Mental retardation, X-linked 12/35300957
IL1RAPL1Mental retardation, X-linked 21/34300143
PAK3Mental retardation, X-linked 30/47300558
GDI1Mental retardation, X-linked 41300849
TSPAN7Mental retardation, X-linked 58300210
ACSL4Mental retardation, X-linked 63300387
FTSJ1Mental retardation, X-linked 9309549
DLG3Mental retardation, X-linked 90300850
GRIA3Mental retardation, X-linked 94300699
ZNF711Mental retardation, X-linked 97300803
USP9XMental retardation, X-linked 99300919
AP1S2Mental retardation, X-linked syndromic 5304340
ZDHHC9Mental retardation, X-linked syndromic, Raymond type300799
HUWE1Mental retardation, X-linked syndromic, Turner type300706
NLGN4XMental retardation, X-linked, Asperger syndrome susceptibility, X-linked300427
AFF2Mental retardation, X-linked, FRAXE type309548
MECP2Mental retardation, X-linked, syndromic 13300055
UPF3BMental retardation, X-linked, syndromic 14300676
CUL4BMental retardation, X-linked, syndromic 15300354
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen type300534
ARSAMetachromatic leukodystrophy250100
MMACHCMethylmalonic aciduria and homocystinuria, cblC type277400
LMBRD1Methylmalonic aciduria and homocystinuria, cblF type277380
ABCD4Methylmalonic aciduria and homocystinuria, cblJ type614857
MUTMethylmalonic aciduria, mut(0) type251000
MMAAMethylmalonic aciduria, vitamin B12-responsive251100
MMABMethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type251110
MCEEMethylmalonyl-CoA epimerase deficiency251120
RAXMicrophthalmia, isolated 3611038
GNPTABMucolipidosis II and III, alpha/beta252500; 252600
MCOLN1Mucolipidosis IV252650
SGSHMucopolysaccharidisis type IIIA (Sanfilippo A)252900
IDUAMucopolysaccharidosis Ih607014
IDSMucopolysaccharidosis II309900
GALNSMucopolysaccharidosis IVA253000
NAGLUMucopolysaccharidosis type IIIB (Sanfilippo B)252920
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C)252930
GNSMucopolysaccharidosis type IIID252940
ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy)253200
POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1236670
POMT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2613150
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280
FKRPMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5613153
CAPN3Muscular dystrophy, limb-girdle, type 2A253600
SGCAMuscular dystrophy, limb-girdle, type 2D608099
SGCBMuscular dystrophy, limb-girdle, type 2E604286
CLCN1Myotonia congenita, dominant; recessive160800; 255700
NEBNemaline myopathy 2, autosomal recessive256030
NPHS1Nephrotic syndrome, type 1256300
HAX1Neutropenia, severe congenital 3, autosomal recessive610738
SMPD1Niemann-Pick disease, type A257200
NPC1Niemann-Pick disease, type C1257220
NPC2Niemann-pick disease, type C2607625
NBNNijmegen Breakage Syndrome (Ataxia telangectasia, type 1)251260
NDPNorrie disease310600
GPR143Nystagmus 6, congenital, X-linked300814
OTCOrnithine transcarbamylase deficiency311250
P3H1Osteogenesis imperfecta, type VIII610915
PLP1Pelizaeus-Merzbacher disease312080
ACOX1Peroxisomal acyl-CoA oxidase deficiency264470
PEX1Peroxisome biogenesis disorder 1A (Zellweger)214100
PEX10Peroxisome biogenesis disorder 6A (Zellweger)614870
PEX7Peroxisome biogenesis disorder 9B; Rhizomelic chondroplasia punctata, type I614879; 215100
PAHPhenylketonuria261600
PGK1Phosphoglycerate kinase 1 deficiency300653
PROP1Pituitary hormone deficiency, combined, 2262600
PKHD1Polycystic kidney and hepatic disease263200
DNAH5Primary ciliary dyskinesia608644
PCCAPropionic acidemia606054
PCCBPropionic acidemia606054
PCPyruvate carboxylase deficiency266150
PDHBPyruvate dehydrogenase E1-beta deficiency614111
PQBP1Renpenning syndrome309500
RP2Retinitis pigmentosa 2312600
EYSRetinitis pigmentosa 25602772
CERKLRetinitis pigmentosa 26608380
USH2ARetinitis pigmentosa 39613809
PDE6ARetinitis pigmentosa 43613810
CNGB1Retinitis pigmentosa 45613767
IDH3BRetinitis pigmentosa 46612572
CNGA1Retinitis pigmentosa 49613756
DHDDSRetinitis pigmentosa 59613861
RS1Retinoschisis312700
AGPSRhizomelic chondrodysplasia punctata, type 3600121
HEXBSandhoff disease, infantile, juvenile, and adult forms268800
JAK3SCID, autosomal recessive, T-negative/B-positive type600802
THSegawa syndrome, recessive605407
ADASevere combined immunodeficiency due to ADA deficiency102700
IL2RGSevere combined immunodeficiency, X-linked300400
DHCR7Smith-Lemli-Opitz syndrome270400
SACSSpastic ataxia, Charlevoix-Saguenay type270550
SPG11Spastic paraplegia 11, autosomal recessive604360
SPG7Spastic paraplegia 7, autosomal recessive607259
SMN1Spinal muscular atrophy, type I253300
HEXATay-Sachs; GM2-gangliosidosis, several forms272800
HBBThalassemia, beta613985
HBA1Thalassemias, alpha-604131
HBA2Thalassemias, alpha-604131
MPLThrombocytopenia, congenital amegakaryocytic604498
DUOX2Thryoid dyshormonogenesis 6607200
SLC5A5Thyroid dyshormonogenesis 1274400
TPOThyroid dyshormonogenesis 2A274500
TGThyroid dyshormonogenesis 3274700
IYDThyroid dyshormonogenesis 4274800
DUOXA2Thyroid dyshormonogenesis 5274900
THRBThyroid hormone resistance274700
POLR1CTreacher Collins syndrome 3248390
HADHBTrifunctional protein deficiency609015
FAHTyrosinemia, type I276700
TATTyrosinemia, type II276600
MYO7AUsher syndrome, type 1B; Deafness, autosomal dominant 11276900; 601317
USH1GUsher syndrome, type 1G606943
WHRNUsher syndrome, type 2D / Deafness, autosomal recessive 31611383
CLRN1Usher syndrome, type 3A276902
CASQ2Ventricular tachycardia, catecholaminergic polymorphic, 2611938
TRDNVentricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441
ACADVLVLCAD deficiency201475
FKTNWalker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4253800
ATP7BWilson disease277900
LIPAWolman disease (lysosomal acid lipase deficiency)278000
BRWD3X-linked mental retardation (XLMR) associated with macrocephaly300659

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