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CGT Plus

Based on the recommendation of medical societies


Genes: 306

Variants: 16592

Numbers of diseases: 352

Estimated carrier rate (%)*: 54.8%

Estimated mean of mutations/individual**: 1.46

Mean depth: 350X

Complementary tests: HBA, F8, FMR1, SMN1

Sample: Blood or saliva

TAT: 20 working days

All X-linked disorders, are only analysed in women.

Version 1.0

ABCA12Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)
ABCB11Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2
ABCC8Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)
ACAD9Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)
ACADMMedium-chain acyl-CoA dehydrogenase deficiency
ACADSShort-chain acyl-CoA dehydrogenase deficiency
ACADVLVery long-chain acyl-CoA dehydrogenase deficiency
ACAT1Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)
ACOX1Peroxisomal acyl-CoA oxidase deficiency
ADASevere combined immunodeficiency due to adenosine deaminase deficiency (ADA)
ADAMTS2Ehlers-Danlos syndrome, dermatosparaxis type
AGAAspartylglucosaminuria (glycosylasparaginase deficiency)
AGLGlycogen storage disease, type 3
AGPSRhizomelic chondrodysplasia punctata, type 3
AGXTHyperoxaluria, primary, type 1
AHI1Joubert syndrome, type 3
AIREAutoimmune polyendocrinopathy syndrome type 1
ALDH3A2Sjogren-Larsson syndrome
ALDOBFructose intolerance, hereditary
ALG1Congenital disorder of glycosylation, type 1K
ALG6Congenital disorder of glycosylation, type 1C
ALMS1Alstr?m syndrome
ALPLHypophosphatasia, childhood/infantile
AMTGlycine encephalopathy
ARAndrogen insensitivity syndrome, complete
ARG1Argininemia (arginase deficiency)
ARSAMetachromatic leukodystrophy
ARSBMucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)
ARSEChondrodysplasia punctata, brachytelephalangic
ASLArgininosuccinic aciduria
ASPACanavan disease
ASS1Citrullinemia, type 1
ATP7AMenkes disease; Occipital horn syndrome
ATP7BWilson disease
ATP8B1Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1
B4GALT1Congenital disorder of glycosylation, type 2D
BBS1Bardet-Biedl syndrome, type 1
BBS10Bardet-Biedl syndrome, type 10
BBS2Bardet-Biedl syndrome, type 2
BCKDHAMaple syrup urine disease, type 1A
BCKDHBMaple syrup urine disease, type 1B
BCS1LBCS1L-related disorders, including Leigh syndrome
BLMBloom syndrome
BSNDBartter syndrome, type 4A
BTDBiotinidase deficiency
BTKAgammaglobulinemia X-linked, type 1
CA2Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)
CAPN3Limb-girdle muscular dystrophy, type 1 (LGMD R1)
CBSHomocystinuria due to cystathionine beta-synthase
CD40LGHyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)
CDH23Deafness, autosomal recessive, type 12; Usher syndrome, type 1D
CEP290Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10
CERKLRetinitis pigmentosa, type 26
CFTRCystic fibrosis
CHATMyasthenic syndrome, congenital, type 6, presynaptic
CHRNEMyasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency
CLN3Ceroid lipofuscinosis, neuronal, type 3
CLN5Ceroid lipofuscinosis, neuronal, type 5
CLN6Ceroid lipofuscinosis, neuronal, type 6
CLN8Ceroid lipofuscinosis, neuronal, type 8
CLRN1Usher syndrome, type 3A
CNGB3Achromatopsia, type 3
COL4A3Alport syndrome, autosomal recessive, type 2
COL4A4Alport syndrome, autosomal recessive, type 2
COL7A1Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibial
COLQMyasthenic syndrome, congenital, type 5
CPS1Carbamoylphosphate synthetase 1 deficiency
CPT1ACarnitine palmitoyltransferase type 1A deficiency, hepatic
CPT2Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantile
CRB1Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8
CRTAPOsteogenesis imperfecta, type 7
CTNSNephropathic cystinosis
CTSDCeroid lipofuscinosis, neuronal, type 10
CYBAChronic granulomatous disease, autosomal recessive, due to deficiency of CYBA
CYBBChronic granulomatous disease, X-linked
CYP1B1Glaucoma, primary congenital, type 3A
CYP27A1Cerebrotendinous xanthomatosis
DBTMaple syrup urine disease, type 2
DCLRE1COmenn syndrome; Severe combined immunodeficiency, Athabascan type
DDB2Xeroderma pigmentosum, complementation group E
DHCR7Smith-Lemli-Opitz syndrome
DHDDSRetinitis pigmentosa, type 59
DLDDihydrolipoamide dehydrogenase deficiency
DOK7Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10
DOLKCongenital disorder of glycosylation, type 1M
DPAGT1Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13
DPM1Congenital disorder of glycosylation, type 1E
DPYDDihydropyrimidine dehydrogenase deficiency
DYSFMiyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)
EDAEctodermal dysplasia, type 1, hypohidrotic, X-linked
EIF2B5Leukoencephalopathy with vanishing white matter
EMDEmery-Dreifuss muscular dystrophy, type 1, X-linked
ERCC2Trichothiodystrophy, type 1
ERCC3Trichothiodystrophy, type 2
ERCC5Cerebrooculofacioskeletal syndrome, type 3
ESCO2Roberts syndrome
ETFAGlutaric acidemia, type 2A
ETFBGlutaric acidemia, type 2B
ETFDHGlutaric acidemia, type 2C
ETHE1Ethylmalonic encephalopathy
EYSRetinitis pigmentosa, type 25
F8Hemophilia A
F9Hemophilia B
FAHTyrosinemia, type 1
FAM20CRaine syndrome
FANCAFanconi anemia, complementation group A
FANCCFanconi anemia, complementation group C
FANCGFanconi anemia, complementation group G
FHFumarase deficiency
FKRPMuscular dystrophy-dystroglycanopathy, type 5A, 5B and 5C
FKTNMuscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])
FMR1Fragile X syndrome
FRAS1Fraser syndrome, type 1
G6PCGlycogen storage disease, type 1A
G6PC3Dursun syndrome
G6PDHemolytic anemia, G6PD deficient (favism)
GAAGlycogen storage disease, type 2
GALCKrabbe disease
GALK1Galactokinase deficiency with cataracts
GALNSMucopolysaccharidosis, type 4A
GAMTCerebral creatine deficiency syndrome type 2
GBAGaucher disease
GBE1Glycogen storage disease, type 4
GCDHGlutaricaciduria, type 1
GCH1Hyperphenylalaninemia, BH4-deficient, type B
GFM1Combined oxidative phosphorylation deficiency, type 1
GJB2Deafness, autosomal recessive, type 1A
GLAFabry disease
GLB1GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)
GLDCGlycine encephalopathy
GLE1Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell disease
GNEInclusion body myopathy, type 2 (Nonaka myopathy)
GNPTABMucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/beta
GNSMucopolysaccharidosis, type 3D (Sanfilippo syndrome D)
GPR143Ocular albinism, type 1 (Nettleship-Falls type)
GRHPRHyperoxaluria, primary, type 2
GUSBMucopolysaccharidosis, type 7
HADHALCHAD deficiency
HADHBTrifunctional protein deficiency
HAX1Neutropenia, severe congenital, type 3, autosomal recessive
HBA1Thalassemia, alpha-
HBA2Thalassemia, alpha-
HBBHBB-related hemoglobinopathy
HEXATay-Sachs disease
HEXBSandhoff disease, infantile, juvenile, and adult forms
HGSNATMucopolysaccharidosis type 3C (Sanfilippo syndrome C)
HLCSHolocarboxylase synthetase deficiency
HMGCLHMG-CoA lyase deficiency
HPS1Hermansky-Pudlak syndrome, type 1
HPS3Hermansky-Pudlak syndrome 3
HSD17B4D-bifunctional protein deficiency
HSPG2Dyssegmental dysplasia, Silverman-Handmaker type
HYLS1Hydrolethalus syndrome
IDSMucopolysaccharidosis, type 2
IDUAMucopolysaccharidosis, type 1H; Mucopolysaccharidosis, type 1H/S; Mucopolysaccharidosis, type 1S
IGHMBP2Charcot-Marie-Tooth disease, axonal, type 2S
IL2RGSevere combined immunodeficiency, X-linked
IVDIsovaleric acidemia
KCNJ11Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)
L1CAML1 Syndrome
LAMA2LAMA2-related muscular dystrophy
LAMA3Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type
LAMB3Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type
LAMC2Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type
LARGE1Muscular dystrophy-dystroglycanopathy, type 6A and 6B
LHX3Pituitary hormone deficiency, combined, type 3
LIFRStuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome
LIPALysosomal acid lipase deficiency
LOXHD1Deafness, autosomal recessive type 77
LRPPRCLeigh syndrome, French-Canadian type
LYSTChediak-Higashi syndrome
MAN2B1Mannosidosis, alpha-, types I and II
MCCC23-Methylcrotonyl-CoA carboxylase type 2, deficiency
MCOLN1Mucolipidosis type 4
MECP2Encephalopathy, neonatal severe
MEFVFamilial Mediterranean fever
MFSD8Ceroid lipofuscinosis, neuronal, type 7
MKS1Bardet-Biedl syndrome type 13; Meckel syndrome, type 1
MLC1Megalencephalic leukoencephalopathy with subcortical cysts
MMAAMethylmalonic aciduria, vitamin B12-responsive
MMABMethylmalonic aciduria, vitamin B12-responsive, type cblB
MMACHCMethylmalonic aciduria and homocystinuria, cblC type
MMADHCHomocystinuria, cblD type, variant 1
MMUTMethylmalonic aciduria, mut(0) type
MOGSCongenital disorder of glycosylation, type 2B
MPICongenital disorder of glycosylation, type 1b
MPLThrombocytopenia, congenital amegakaryocytic
MPV17Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EE
MTM1Myotubular myopathy, X-linked
MTRHomocystinuria-megaloblastic anemia, cblG complementation type
MTRRHomocystinuria-megaloblastic anemia, cbl E type
MYO7AUsher syndrome, type 1B; Deafness, autosomal recessive, type 2
NAGLUMucopolysaccharidosis, type 3B (Sanfilippo B)
NAGSN-acetylglutamate synthase deficiency
NBNNijmegen breakage syndrome
NCF1Chronic granulomatous disease due to deficiency of NCF-1
NCF2Chronic granulomatous disease due to deficiency of NCF-2
NDRG1Charcot-Marie-Tooth disease, type 4D
NEBNemaline myopathy type 2, autosomal recessive
NHP2Dyskeratosis congenita, autosomal recessive type 2
NOP10Dyskeratosis congenita, autosomal recessive type 1
NPC1Niemann-Pick disease, type C1
NPC2Niemann-pick disease, type C2
NPHS1Nephrotic syndrome, type 1
NPHS2Nephrotic syndrome, type 2
NR0B1Adrenal hypoplasia, congenital
NR2E3Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37
NTRK1Insensitivity to pain, congenital, with anhidrosis
OATGyrate atrophy of choroid and retina
OCA2Oculocutaneous albinism type 2
OCRLLowe Syndrome; Dent disease type 2
OPA33-methylglutaconic aciduria, type 3
OSTM1Osteopetrosis, autosomal recessive type 5
OTCOrnithine transcarbamylase deficiency
P3H1Osteogenesis imperfecta, type 8
PCPyruvate carboxylase deficiency
PCCAPropionic acidemia
PCCBPropionic acidemia
PCDH15Deafness, autosomal recessive type 23; Usher syndrome, type 1D/F digenic
PDHA1Pyruvate dehydrogenase E1-alpha deficiency
PEX1Heimler syndrome type 1
PEX2Peroxisome biogenesis disorder type 5A (Zellweger)
PEX5Peroxisome biogenesis disorder type 2A (Zellweger)
PEX6Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2
PEX7Rhizomelic chondrodysplasia punctata, type 1
PHGDHNeu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiency
PKHD1Polycystic kidney disease type 4
PLA2G6Infantile neuroaxonal dystrophy type 1
PLOD1Ehlers-Danlos syndrome, kyphoscoliotic type, 1
PMM2Congenital disorder of glycosylation, type 1A
PNPOPyridoxamine 5'-phosphate oxidase deficiency
POLGPOLG-related disorders
POMGNT1Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])
POMT1Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])
POMT2Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])
POU1F1Pituitary hormone deficiency, combined, type 1
PPT1Ceroid lipofuscinosis, neuronal, type 1
PRF1Hemophagocytic lymphohistiocytosis, familial, type 2
PROP1Pituitary hormone deficiency, combined, type 2
PSAPCombined SAP deficiency
PTSHyperphenylalaninemia, BH4-deficient, type A
PYGMMcArdle disease
QDPRHyperphenylalaninemia, BH4-deficient, type C
RAB23Carpenter syndrome
RAG1Omenn syndrome; Severe combined immunodeficiency, B cell-negative
RAG2Omenn syndrome; Severe combined immunodeficiency, B cell-negative
RAPSNFetal akinesia deformation sequence; Myasthenic syndrome, congenital, 11, associated with AChR deficiency
RDH12Leber congenital amaurosis, type 13
RPE65Leber congenital amaurosis, type 2
RPGRIP1LJoubert syndrome, type 7; Meckel syndrome, type 5; COACH syndrome
RTEL1Dyskeratosis congenita, autosomal recessive 5
SACSSpastic ataxia, Charlevoix-Saguenay, type
SBDSShwachman-Diamond syndrome
SGCALimb-girdle muscular dystrophy, type 3 (LGMD R3)
SGCBLimb-girdle muscular dystrophy, type 4 (LGMD R4)
SGCGLimb-girdle muscular dystrophy, type 5 (LGMD R5)
SGSHMucopolysaccharidosis, type 3A (Sanfilippo A)
SH2D1ALymphoproliferative syndrome, X-linked, type 1
SLC12A3Gitelman syndrome
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy
SLC17A5Salla disease
SLC22A5Carnitine deficiency, systemic primary
SLC25A13Citrullinemia, adult-onset, type 2
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC26A2Achondrogenesis, type 1B (diastrophic dysplasia)
SLC26A4Deafness, autosomal recessive, type 4; Pendred syndrome
SLC35A1Congenital disorder of glycosylation, type 2F
SLC35A3?Arthrogryposis, mental retardation, and seizures
SLC35C1Congenital disorder of glycosylation, type 2C
SLC35D1Schneckenbecken dysplasia
SLC37A4Glycogen storage disease, type 1b
SLC45A2Albinism, oculocutaneous, type 4
SLC4A11Corneal endothelial dystrophy, autosomal recessive
SLC6A8Cerebral creatine deficiency syndrome, type 1
SLC7A7Lysinuric protein intolerance
SMN1Spinal muscular atrophy
SMPD1Niemann-Pick disease, type A; Niemann-Pick disease, type B
STARLipoid adrenal hyperplasia
SUMF1Multiple sulfatase deficiency
TCIRG1Osteopetrosis, autosomal recessive, type 1
TFR2Hemochromatosis, type 3
TGM1Ichthyosis, congenital, autosomal recessive, type 1
THSegawa syndrome, recessive
TMEM216Joubert syndrome, type 2; Meckel syndrome, type 2
TPP1Ceroid lipofuscinosis, neuronal, type 2
TSEN54Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4
TSFMCombined oxidative phosphorylation deficiency, type 3
TTPAAtaxia with isolated vitamin E deficiency
TYROculocutaneous albinism (OCA) type 1A; OCA type 1B
UGT1A1Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2
UNC13DHemophagocytic lymphohistiocytosis, familial, type 3
USH1CUsher syndrome, type 1C; Deafness, autosomal recessive, type 18A
USH1GUsher syndrome, type 1G
USH2AUsher syndrome, type 2A
WASWiskott-Aldrich syndrome; Thrombocytopenia, X-linked
WNT10AOdontoonychodermal dysplasia
XPAXeroderma pigmentosum, group A
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