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Diagnosis of recessive diseases (panel, qCarrier Plus)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 15/01/2018

qGenomics
qGenomics
Calle Joan XXIII, 10
08950 ESPLUGUES DE LLOBREGAT
SPAIN
Director of laboratory : Dr Lluís ARMENGOL
More information

Phone : 34 932 30 12 70
Additional Phone : -
Fax : -
Website
Contact
email

Last update: January 2018

Responsible of diagnostic test

Dr María SEGURA

Purpose(s)

Antenatal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (308)

2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaric aciduria

3-methylcrotonyl-CoA carboxylase deficiency

46,XY difference of sex development due to isolated 17,20-lyase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

Aarskog-Scott syndrome

Achondrogenesis type 1B

Acute neonatal citrullinemia type I

Adrenomyeloneuropathy

Adult Krabbe disease

Allan-Herndon-Dudley syndrome

Alpha-1-antitrypsin deficiency

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-thalassemia-X-linked intellectual disability syndrome

Anauxetic dysplasia

Argininosuccinic aciduria

Aspartylglucosaminuria

Ataxia with vitamin E deficiency

Ataxia-telangiectasia

Autoimmune polyendocrinopathy type 1

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive Alport syndrome

Autosomal recessive dopa-responsive dystonia

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic paraplegia type 11

Bardet-Biedl syndrome

Bartter syndrome type 4

Bathing suit ichthyosis

Becker muscular dystrophy

Beta-ketothiolase deficiency

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-thalassemia intermedia

Beta-thalassemia major

Biotinidase deficiency

Björnstad syndrome

Brachytelephalangic chondrodysplasia punctata

Calpain-3-related limb-girdle muscular dystrophy R1

Carbamoyl-phosphate synthetase 1 deficiency

Carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyl transferase II deficiency, neonatal form

Carnitine-acylcarnitine translocase deficiency

Catecholaminergic polymorphic ventricular tachycardia

Cerebrotendinous xanthomatosis

Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4D

Childhood-onset nemaline myopathy

Cholesteryl ester storage disease

Citrullinemia type II

Classic galactosemia

Classic homocystinuria

Classic maple syrup urine disease

Classic phenylketonuria

Coffin-Lowry syndrome

Combined malonic and methylmalonic acidemia

Combined pituitary hormone deficiencies, genetic forms

Complete androgen insensitivity syndrome

Cone rod dystrophy

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Congenital amegakaryocytic thrombocytopenia

Congenital bilateral absence of vas deferens

Congenital factor II deficiency

Congenital factor V deficiency

Congenital factor XI deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Congenital muscular dystrophy, Fukuyama type

Congenital nephrotic syndrome, Finnish type

Cystathioninuria

Cystic fibrosis

Cystinuria type A

Cystinuria type B

Deafness-enamel hypoplasia-nail defects syndrome

Dent disease type 2

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Dihydropteridine reductase deficiency

Duchenne muscular dystrophy

Dysferlin-related limb-girdle muscular dystrophy R2

Early infantile epileptic encephalopathy

Ellis Van Creveld syndrome

Erythrocyte galactose epimerase deficiency

Ethylmalonic encephalopathy

FRAXE intellectual disability

Familial Mediterranean fever

Familial gestational hyperthyroidism

Familial thyroid dyshormonogenesis

Fetal Gaucher disease

Formiminoglutamic aciduria

Fragile X syndrome

Friedreich ataxia

Fuchs endothelial corneal dystrophy

Fumaric aciduria

GM1 gangliosidosis type 1

GM1 gangliosidosis type 2

GM1 gangliosidosis type 3

Galactokinase deficiency

Generalized galactose epimerase deficiency

Glutaryl-CoA dehydrogenase deficiency

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Goldmann-Favre syndrome

HJV or HAMP-related hemochromatosis

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hartnup disease

Hereditary folate malabsorption

Hereditary fructose intolerance

Holocarboxylase synthetase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Homozygous familial hypercholesterolemia

Hurler syndrome

Hyperimmunoglobulinemia D with periodic fever

Hypermethioninemia due to glycine N-methyltransferase deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

Hyperprolinemia type 2

Hypothyroidism due to TSH receptor mutations

Infantile Krabbe disease

Infantile epileptic-dyskinetic encephalopathy

Infantile glycine encephalopathy

Infantile nephropathic cystinosis

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile spasms syndrome

Intermediate generalized junctional epidermolysis bullosa

Intermediate maple syrup urine disease

Intermediate nemaline myopathy

Intermittent maple syrup urine disease

Isolated microphthalmia-anophthalmia-coloboma

Isolated thyroid-stimulating hormone deficiency

Isovaleric acidemia

Joubert syndrome

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert syndrome with renal defect

Junctional epidermolysis bullosa inversa

KDM5C-related syndromic X-linked intellectual disability

Kostmann syndrome

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

Lamellar ichthyosis

Late-infantile/juvenile Krabbe disease

Late-onset citrullinemia type I

Leber congenital amaurosis

Lethal ataxia with deafness and optic atrophy

Lissencephaly type 1 due to doublecortin gene mutation

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Lujan-Fryns syndrome

Macular corneal dystrophy

Malonic aciduria

Maternal phenylketonuria

Meckel syndrome

Medium chain acyl-CoA dehydrogenase deficiency

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, late infantile form

Methionine adenosyltransferase I/III deficiency

Methylcobalamin deficiency type cblDv1

Methylcobalamin deficiency type cblE

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Methylmalonic acidemia with homocystinuria type cblF

Methylmalonic acidemia with homocystinuria, type cblC

Methylmalonic acidemia with homocystinuria, type cblD

Methylmalonic acidemia with homocystinuria, type cblJ

Mevalonic aciduria

Mild Canavan disease

Mild hyperphenylalaninemia

Mild phenylketonuria

Mitochondrial trifunctional protein deficiency

Mucolipidosis type II

Mucolipidosis type III alpha/beta

Mucolipidosis type IV

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 4A

Mucopolysaccharidosis type 4B

Mucopolysaccharidosis type 6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Multiple acyl-CoA dehydrogenase deficiency, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Muscle-eye-brain disease

Neonatal glycine encephalopathy

Neonatal intrahepatic cholestasis due to citrin deficiency

Neuronal ceroid lipofuscinosis

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Nijmegen breakage syndrome

Non-acquired panhypopituitarism

Non-specific syndromic intellectual disability

Normosmic congenital hypogonadotropic hypogonadism

Ornithine transcarbamylase deficiency

Osteogenesis imperfecta type 2

Osteogenesis imperfecta type 3

Pelizaeus-Merzbacher disease, connatal form

Peroxisomal acyl-CoA oxidase deficiency

Primary ciliary dyskinesia

Primary hyperoxaluria type 1

Primary hyperoxaluria type 2

Progressive familial intrahepatic cholestasis type 2

Propionic acidemia

Proximal spinal muscular atrophy type 1

Pterin-4 alpha-carbinolamine dehydratase deficiency

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E3 deficiency

Rare X-linked non-syndromic sensorineural deafness type DFN

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Recessive dystrophic epidermolysis bullosa inversa

Retinitis pigmentosa

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 3

S-adenosylhomocysteine hydrolase deficiency

SURF1-related Charcot-Marie-Tooth disease type 4

Sandhoff disease, adult form

Sandhoff disease, infantile form

Sandhoff disease, juvenile form

Sanfilippo syndrome type A

Sanfilippo syndrome type B

Sanfilippo syndrome type C

Sanfilippo syndrome type D

Self-improving collodion baby

Senior-Loken syndrome

Severe Canavan disease

Severe combined immunodeficiency due to adenosine deaminase deficiency

Severe congenital nemaline myopathy

Severe generalized junctional epidermolysis bullosa

Short chain acyl-CoA dehydrogenase deficiency

Smith-Lemli-Opitz syndrome

Spastic paraplegia type 7

Subcortical band heterotopia

Symptomatic form of fragile X syndrome in female carriers

Systemic primary carnitine deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ severe combined immunodeficiency due to gamma chain deficiency

TFR2-related hemochromatosis

Tay-Sachs disease, B variant, adult form

Tay-Sachs disease, B variant, infantile form

Tay-Sachs disease, B variant, juvenile form

Tay-Sachs disease, B1 variant

Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Thiamine-responsive maple syrup urine disease

Thomsen and Becker disease

Thyroid ectopia

Thyroid hypoplasia

Treacher-Collins syndrome

Typical nemaline myopathy

Tyrosinemia type 1

Tyrosinemia type 2

Usher syndrome type 1

Usher syndrome type 2

Usher syndrome type 3

Very long chain acyl-CoA dehydrogenase deficiency

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Walker-Warburg syndrome

X-linked cerebral adrenoleukodystrophy

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked hyper-IgM syndrome

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability, Cabezas type

X-linked intellectual disability, Najm type

X-linked intellectual disability, Siderius type

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked non-syndromic intellectual disability

X-linked retinoschisis

X-linked spasticity-intellectual disability-epilepsy syndrome

List of genes tested (including panels) (304)

Additional information

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