Invitae Comprehensive Carrier Screen
At a Glance
Autosomal recessive congenital ichthyosis 1;
3 beta-Hydroxysteroid dehydrogenase deficiency;
3-Methylglutaconic aciduria type 3
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Autosomal recessive congenital ichthyosis 1
3 beta-Hydroxysteroid dehydrogenase deficiency
3-Methylglutaconic aciduria type 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
46,XY sex reversal 2
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
ALG1-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
Abetalipoproteinaemia
Achondrogenesis, type IB
Achromatopsia 3
Acquired hemoglobin H disease
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute lymphoid leukemia
Acute myeloid leukemia
Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA oxidase deficiency
Adrenoleukodystrophy
Adult hypophosphatasia
Adult polyglucosan body disease
Age related macular degeneration 2
Age related macular degeneration 5
Agenesis of the corpus callosum with peripheral neuropathy
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alstrom syndrome
Amelogenesis imperfecta type 1A
Aminoglycoside-induced deafness
Amyotrophic lateral sclerosis type 5
Anauxetic dysplasia 1
Androgen resistance syndrome
Anterior segment dysgenesis 6
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Aplastic anemia
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininosuccinate lyase deficiency
Aromatase deficiency
Aromatase excess syndrome
Arthrogryposis multiplex congenita 6
Arts syndrome
Aspartylglucosaminuria
Asphyxiating thoracic dystrophy 3
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia-like disorder 1
Atelosteogenesis type II
Atransferrinemia
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Autism, susceptibility to, X-linked 3
Autoimmune thyroid disease, susceptibility to, 3
Autosomal dominant Alport syndrome
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant nonsyndromic hearing loss 13
Autosomal dominant nonsyndromic hearing loss 36
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive Alport syndrome
Autosomal recessive DOPA responsive dystonia
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Parkinson disease 14
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive multiple pterygium syndrome
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 22
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 3
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 53
Autosomal recessive nonsyndromic hearing loss 7
Autosomal recessive nonsyndromic hearing loss 76
Autosomal recessive nonsyndromic hearing loss 77
Autosomal recessive nonsyndromic hearing loss 8
Autosomal recessive nonsyndromic hearing loss 9
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 5
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive spinocerebellar ataxia 10
Autosomal recessive spinocerebellar ataxia 7
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 9
Bartter disease type 1
Bartter disease type 2
Bartter disease type 4A
Becker muscular dystrophy
Benign familial hematuria
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Beta-D-mannosidosis
Beta-thalassemia HBB/LCRB
Bifunctional peroxisomal enzyme deficiency
Bilateral frontoparietal polymicrogyria
Biotin-responsive basal ganglia disease
Bleeding disorder, platelet-type, 24
Bloom syndrome
Bothnia retinal dystrophy
Brachydactyly type A1C
Brachydactyly type C
Brittle cornea syndrome 1
Brittle cornea syndrome 2
Bronchiectasis with or without elevated sweat chloride 1
Bruck syndrome 1
CEDNIK syndrome
COACH syndrome 1
COACH syndrome 2
COACH syndrome 3
COPD, severe early onset
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Central core myopathy
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Cerebrooculofacioskeletal syndrome 1
Cerebrooculofacioskeletal syndrome 2
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease, axonal, IIa 2II
Charcot-Marie-Tooth disease, axonal, type 2EE
Charlevoix-Saguenay spastic ataxia
Chilblain lupus 1
Chilblain lupus 2
Childhood hypophosphatasia
Cholestanol storage disease
Cholestasis, intrahepatic, of pregnancy, 1
Cholestasis, intrahepatic, of pregnancy, 3
Chorea-acanthocytosis
Choroidal dystrophy, central areolar, 1
Choroideremia
Chédiak-Higashi syndrome
Citrullinemia type I
Citrullinemia, type II, adult-onset
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Classic homocystinuria
Cobalamin C disease
Cockayne syndrome type 1
Cockayne syndrome type 2
Cohen syndrome
Combined PSAP deficiency
Combined deficiency of sialidase AND beta galactosidase
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency, X-linked
Combined malonic and methylmalonic acidemia
Cone-rod dystrophy 3
Cone-rod dystrophy 6
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hypoplasia, X-linked
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Congenital amegakaryocytic thrombocytopenia
Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital bile acid synthesis defect 3
Congenital diarrhea 7 with exudative enteropathy
Congenital disorder of deglycosylation 1
Congenital disorder of glycosylation, type IIw
Congenital dyserythropoietic anemia, type II
Congenital hereditary endothelial dystrophy of cornea
Congenital hyperammonemia, type I
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome 4A
Congenital myasthenic syndrome 4B
Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 9
Congenital myopathy 4A, autosomal dominant
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital secretory diarrhea, chloride type
Corneal dystrophy, Fuchs endothelial, 4
Corneal dystrophy-perceptive deafness syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Corticosterone 18-monooxygenase deficiency
Corticosterone methyloxidase type 2 deficiency
Cowden syndrome 7
Creatine transporter deficiency
Curry-Hall syndrome
Cutis laxa, X-linked
Cystic fibrosis
DE SANCTIS-CACCHIONE SYNDROME
DNA ligase IV deficiency
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of galactokinase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hyaluronoglucosaminidase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of iodide peroxidase
Deficiency of malonyl-CoA decarboxylase
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 17-alpha-monooxygenase
Dent disease type 2
Desbuquois dysplasia 1
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 50
Developmental delay and seizures with or without movement abnormalities
Diabetes insipidus, nephrogenic, X-linked
Diabetes insipidus, nephrogenic, autosomal
Diabetes mellitus, permanent neonatal 2
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, transient neonatal, 3
Diastrophic dysplasia
Dihydropteridine reductase deficiency
Dilated cardiomyopathy 1L
Dilated cardiomyopathy 1X
Dilated cardiomyopathy 3B
Distal myopathy with anterior tibial onset
Dominant beta-thalassemia
Dominant dystrophic epidermolysis bullosa with absence of skin
Donnai-Barrow syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dubin-Johnson syndrome
Duchenne muscular dystrophy
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal recessive 5
Dystonia 32
Dystonia 5
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Ectopia lentis 2, isolated, autosomal recessive
Ectopia lentis et pupillae
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy 1, X-linked
Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalopathy, progressive, with amyotrophy and optic atrophy
Enhanced S-cone syndrome
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa, junctional 2A, intermediate
Epidermolysis bullosa, junctional 2B, severe
Epidermolysis bullosa, junctional 3A, intermediate
Epidermolysis bullosa, junctional 3B, severe
Epidermolysis bullosa, junctional 4, intermediate
Epidermolysis bullosa, junctional 5A, intermediate
Epidermolysis bullosa, junctional 6, with pyloric atresia
Epiphyseal dysplasia, multiple, 7
Epithelial recurrent erosion dystrophy
Erythrocytosis, familial, 6
Erythrocytosis, familial, 7
Ethylmalonic encephalopathy
Fabry disease
Facioscapulohumeral muscular dystrophy 4, digenic
Familial cancer of breast
Familial dysautonomia
Familial gestational hyperthyroidism
Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis 4
Familial hemophagocytic lymphohistiocytosis 5
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypokalemia-hypomagnesemia
Familial infantile myasthenia
Familial isolated deficiency of vitamin E
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group C
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group G
Fanconi anemia complementation group I
Fanconi anemia complementation group J
Fanconi anemia complementation group L
Fanconi renotubular syndrome 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Febrile seizures, familial, 4
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 2
Fetal akinesia deformation sequence 3
Fibrochondrogenesis 2
Finnish congenital nephrotic syndrome
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Fraser syndrome 1
Fraser syndrome 2
Fraser syndrome 3
Fructose-biphosphatase deficiency
Fucosidosis
Fumarase deficiency
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GNE myopathy
GNPTG-mucolipidosis
GRACILE syndrome
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Galactosylceramide beta-galactosidase deficiency
Gaucher disease due to saposin C deficiency
Generalized dominant dystrophic epidermolysis bullosa
Geroderma osteodysplastica
Glanzmann thrombasthenia 2
Glaucoma 3, primary infantile, B
Glaucoma 3A
Glucocorticoid deficiency with achalasia
Glucocorticoid-remediable aldosteronism
Glucose-6-phosphate transport defect
Glutaric aciduria, type 1
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Glycogen storage disease IXb
Glycogen storage disease IXc
Glycogen storage disease type III
Glycogen storage disease, type II
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VII
Granulomatous disease, chronic, X-linked
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Grebe syndrome
HSD10 mitochondrial disease
Haim-Munk syndrome
Hawkinsinuria
Hb SS disease
Hearing loss, X-linked 1
Heimler syndrome 1
Heimler syndrome 2
Heinz body anemia
Heme oxygenase 1 deficiency
Hemochromatosis type 2A
Hemochromatosis type 2B
Hemochromatosis type 3
Hemoglobin H disease
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary acrodermatitis enteropathica
Hereditary factor IX deficiency disease
Hereditary fructosuria
Hereditary insensitivity to pain with anhidrosis
Hereditary leiomyomatosis and renal cell cancer
Hereditary pancreatitis
Hereditary persistence of fetal hemoglobin
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia 2
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia 5A
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 9
Histiocytic medullary reticulosis
Holocarboxylase synthetase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Hurler syndrome
Hydrocephalus, nonsyndromic, autosomal recessive 1
Hydrolethalus syndrome 1
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 3
Hyperammonemia, type III
Hypercholesterolemia, familial, 1
Hypercholesterolemia, familial, 4
Hyperimmunoglobulin D with periodic fever
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 4
Hyperlipidemia, familial combined, LPL related
Hyperlipoproteinemia, type I
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hypohidrotic X-linked ectodermal dysplasia
Hypomyelinating leukodystrophy 12
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypospadias 1, X-linked
Hypothyroidism due to TSH receptor mutations
Ichthyosis prematurity syndrome
Ichthyosis, hystrix-like, with hearing loss
Imerslund-Grasbeck syndrome type 2
Immunodeficiency 104
Immunodeficiency 105
Immunodeficiency 15a
Immunodeficiency 18
Immunodeficiency 19
Immunodeficiency 23
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Infantile GM1 gangliosidosis
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile hypophosphatasia
Infantile nephronophthisis
Infantile neuroaxonal dystrophy
Intellectual disability, X-linked, with or without seizures, arx-related
Intellectual disability, autosomal recessive 3
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Interstitial lung disease 2
Interstitial lung disease due to ABCA3 deficiency
Iodotyrosyl coupling defect
Isolated cryptophthalmia
Isolated microphthalmia 2
Isolated thyroid-stimulating hormone deficiency
Isovaleryl-CoA dehydrogenase deficiency
Johanson-Blizzard syndrome
Joubert syndrome 2
Joubert syndrome 28
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 9
Joubert syndrome with renal defect
Juberg-Hayward syndrome
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa, non-Herlitz type
Juvenile nephropathic cystinosis
Juvenile retinoschisis
Kartagener syndrome
Kennedy disease
King Denborough syndrome
Knuckle pads, deafness AND leukonychia syndrome
Kostmann syndrome
Krabbe disease due to saposin A deficiency
Kugelberg-Welander disease
Laron-type isolated somatotropin defect
Laryngo-onycho-cutaneous syndrome
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 2
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 8
Lesch-Nyhan syndrome
Lethal arthrogryposis-anterior horn cell disease syndrome
Lethal congenital contracture syndrome 1
Lethal multiple pterygium syndrome
Leucine-induced hypoglycemia
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Low phospholipid associated cholelithiasis
Lowe syndrome
Lung cancer
Lung disease, immunodeficiency, and chromosome breakage syndrome;
Lymphoma, non-Hodgkin, familial
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
MASA syndrome
MEDNIK syndrome
METHEMOGLOBINEMIA, BETA TYPE
MHC class II deficiency
MIRAGE syndrome
MPI-congenital disorder of glycosylation
Macular dystrophy with central cone involvement
Malaria, susceptibility to
Malignant hyperthermia, susceptibility to, 1
Malignant tumor of prostate
Maple syrup urine disease
Maturity-onset diabetes of the young type 13
McKusick-Kaufman syndrome
Meckel syndrome, type 1
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medulloblastoma
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Melanoma, cutaneous malignant, susceptibility to, 9
Menkes kinky-hair syndrome
Merosin deficient congenital muscular dystrophy
Metabolic syndrome X
Metachromatic leukodystrophy
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Methemoglobinemia, alpha type
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia with homocystinuria, type cblX
Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria and homocystinuria type cblF
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Mevalonic aciduria
Microcephalic osteodysplastic primordial dwarfism type II
Microcephaly 1, primary, autosomal recessive
Microcephaly 9, primary, autosomal recessive
Microcephaly, normal intelligence and immunodeficiency
Microphthalmia, isolated, with coloboma 3
Mitchell syndrome
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial complex 1 deficiency, nuclear type 10
Mitochondrial complex 1 deficiency, nuclear type 16
Mitochondrial complex 1 deficiency, nuclear type 19
Mitochondrial complex 1 deficiency, nuclear type 3
Mitochondrial complex 1 deficiency, nuclear type 4
Mitochondrial complex 1 deficiency, nuclear type 9
Mitochondrial complex 4 deficiency, nuclear type 12
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial trifunctional protein deficiency
Miyoshi muscular dystrophy 1
Monosomy 7 myelodysplasia and leukemia syndrome 2
Mucolipidosis type II
Mucolipidosis type IV
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Mulibrey nanism syndrome
Multiple acyl-CoA dehydrogenase deficiency
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple epiphyseal dysplasia type 4
Multiple myeloma
Multiple sulfatase deficiency
Multiple synostoses syndrome 2
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy type B6
Mutilating keratoderma
Myocardial infarction, susceptibility to
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, reducing body, X-linked, childhood-onset
Myopathy, reducing body, X-linked, early-onset, severe
Myopia 6
Nemaline myopathy 2
Neonatal intrahepatic cholestasis due to citrin deficiency
Nephrogenic syndrome of inappropriate antidiuresis
Nephronophthisis 1
Nephronophthisis 11
Nephropathic cystinosis
Nephrotic syndrome, type 2
Neu-Laxova syndrome 1
Neural tube defects, folate-sensitive
Neurodegeneration with brain iron accumulation 2B
Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronopathy, distal hereditary motor, autosomal recessive 4
Newfoundland cone-rod dystrophy
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Night blindness, congenital stationary, type1i
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Non-ketotic hyperglycinemia
Nonsyndromic congenital nail disorder 8
Normophosphatemic familial tumoral calcinosis
Ocular cystinosis
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Odonto-onycho-dermal dysplasia
Optic atrophy 3
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency
Osteoarthritis susceptibility 5
Osteogenesis imperfecta type 11
Osteogenesis imperfecta type 13
Osteogenesis imperfecta type 7
Osteogenesis imperfecta type 8
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
PHGDH deficiency
PMM2-congenital disorder of glycosylation
Palmoplantar keratoderma-deafness syndrome
Papillon-Lefèvre syndrome
Parkinson disease 24, autosomal dominant, susceptibility to
Parkinsonian-pyramidal syndrome
Partial androgen insensitivity syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Partington syndrome
Pelizaeus-Merzbacher disease
Pendred syndrome
Periodontitis, aggressive 1
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder type 3B
Perrault syndrome 1
Phenylketonuria
Phosphate transport defect
Phosphoribosylpyrophosphate synthetase superactivity
Phytanic acid storage disease
Pigmentary pallidal degeneration
Pigmentary retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Pili torti-deafness syndrome
Pituitary adenoma 5, multiple types
Pituitary hormone deficiency, combined, 1
Pituitary hormone deficiency, combined, 2
Polycystic kidney disease 4
Polyglandular autoimmune syndrome, type 1
Polymicrogyria, bilateral perisylvian, autosomal recessive
Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia type 2E
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Porokeratosis 3, disseminated superficial actinic type
Portal hypertension, noncirrhotic, 1
Premature ovarian failure 1
Premature ovarian failure 11
Pretibial dystrophic epidermolysis bullosa
Primary CD59 deficiency
Primary ciliary dyskinesia 14
Primary ciliary dyskinesia 17
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia 9
Primary hyperoxaluria type 3
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary myelofibrosis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive sclerosing poliodystrophy
Prolidase deficiency
Propionic acidemia
Pseudo-Hurler polydystrophy
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Pulmonary hypertension, neonatal, susceptibility to
Pyknodysostosis
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3 deficiency
RAB23-related Carpenter syndrome
RHYNS syndrome
Recessive dystrophic epidermolysis bullosa
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Renal carnitine transport defect
Renal tubular acidosis with progressive nerve deafness
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinitis pigmentosa 12
Retinitis pigmentosa 14
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 28
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 39
Retinitis pigmentosa 55
Retinitis pigmentosa 59
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 73
Retinitis pigmentosa 74
Retinitis pigmentosa 76
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 93
Rett syndrome
Rheumatoid arthritis
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctata type 5
Roberts-SC phocomelia syndrome
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
Salla disease
Sandhoff disease
Sarcotubular myopathy
SchC6pf-Schulz-Passarge syndrome
Schimke immuno-osseous dysplasia
Schizophrenia
Seckel syndrome 5
Senior-Loken syndrome 1
Senior-Loken syndrome 6
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe X-linked myotubular myopathy
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to IKK2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe early-childhood-onset retinal dystrophy
Severe neonatal-onset encephalopathy with microcephaly
Short stature due to partial GHR deficiency
Sialic acid storage disease, severe infantile type
Sialidosis type 2
Sialuria
Sjögren-Larsson syndrome
Skin/hair/eye pigmentation, variation in, 11
Smith-Lemli-Opitz syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Sphingolipid activator protein 1 deficiency
Spinal muscular atrophy, type II
Spinal muscular atrophy, type IV
Spinocerebellar ataxia type 40
Spondylocostal dysostosis 1, autosomal recessive
Spondylocostal dysostosis 2, autosomal recessive
Spongy degeneration of central nervous system
Steel syndrome
Stüve-Wiedemann syndrome 1
Sulfite oxidase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Symphalangism, proximal, 1B
Syndromic X-linked intellectual disability Lubs type
Systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
Tay-Sachs disease
Testosterone 17-beta-dehydrogenase deficiency
Thrombocythemia 2
Thrombocytopenia 1
Thrombophilia due to thrombin defect
Thrombophilia, X-linked, due to factor 9 defect
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 6
Tooth agenesis, selective, 4
Tooth agenesis, selective, X-linked, 1
Transcobalamin II deficiency
Transient bullous dermolysis of the newborn
Trichothiodystrophy 1, photosensitive
Trimethylaminuria
Tumoral calcinosis, hyperphosphatemic, familial, 1
Type 2 diabetes mellitus
Type A2 brachydactyly
Tyrosinase-negative oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
UDPglucose-4-epimerase deficiency
UV-sensitive syndrome 1
UV-sensitive syndrome 2
Uruguay Faciocardiomusculoskeletal syndrome
Usher syndrome type 1
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome type 2A
Usher syndrome type 2C
Usher syndrome type 3A
VACTERL association, X-linked, with or without hydrocephalus
Vanishing white matter disease
Very long chain acyl-CoA dehydrogenase deficiency
Vici syndrome
Vitamin D-dependent rickets type II with alopecia
Vitamin D-dependent rickets, type 1A
Warfarin sensitivity, X-linked
Warsaw breakage syndrome
Werdnig-Hoffmann disease
Werner syndrome
Wilson disease
Wiskott-Aldrich syndrome
Wolcott-Rallison dysplasia
Woodhouse-Sakati syndrome
X-linked Alport syndrome
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked Opitz G/BBB syndrome
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked complicated corpus callosum dysgenesis
X-linked distal spinal muscular atrophy type 3
X-linked hydrocephalus syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked lissencephaly with abnormal genitalia
X-linked mixed hearing loss with perilymphatic gusher
X-linked myopathy with postural muscle atrophy
X-linked scapuloperoneal muscular dystrophy
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
Xeroderma pigmentosum group A
Xeroderma pigmentosum variant type
Xeroderma pigmentosum, group C
Xeroderma pigmentosum, group D
alpha Thalassemia
AAAS (12q13.13);
ABCA12 (2q35);
ABCA3 (16p13.3);
ABCA4 (1p22.1);
ABCB11 (2q31.1)
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
The Invitae Comprehensive Carrier Screen is appropriate for those of …
Ordering Information
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Nurse Practitioner
Physician Assistant
Registered Nurse
Test Order Code:
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60100
How to Order:
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Tests can be ordered online or by submitting a paper requisition form.
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Test strategy:
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Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Contact policy
Conditions
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Total conditions: 886
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 547
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Screening
Target population:
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The Invitae Comprehensive Carrier Screen is appropriate for those of all ethnicities who want an expanded assessment of their risk of having a child affected with a genetic condition. This screen is not intended for diagnostic use.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
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Tests performed
Analytical Validity:
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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
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Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic …
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
8884
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
