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Labcorp Genetics (formerly Invitae)
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
At a Glance
Diagnosis;
Pre-symptomatic;
Therapeutic management
Combined oxidative phosphorylation defect type 8;
3-Methylglutaconic aciduria type 3;
3-methylcrotonyl-CoA carboxylase 1 deficiency
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Combined oxidative phosphorylation defect type 8
3-Methylglutaconic aciduria type 3
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
46,XY sex reversal 11
4p partial monosomy syndrome
ABCD syndrome
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
ALDH18A1-related de Barsy syndrome
ALG12-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
ALG9 congenital disorder of glycosylation
Abortive cerebellar ataxia
Acquired hemoglobin H disease
Acroosteolysis-keloid-like lesions-premature aging syndrome
Acyl-CoA oxidase deficiency
Adams-Oliver syndrome 1
Adams-Oliver syndrome 2
Adams-Oliver syndrome 3
Adams-Oliver syndrome 4
Adams-Oliver syndrome 5
Adams-Oliver syndrome 6
Adenosine kinase deficiency
Adenylosuccinate lyase deficiency
Adrenoleukodystrophy
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
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Alexander disease
Alkaline ceramidase 3 deficiency
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-methylacyl-CoA racemase deficiency
Aminoacylase 1 deficiency
Amish lethal microcephaly
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis type 5
Amyotrophic lateral sclerosis, susceptibility to, 24
Andersen Tawil syndrome
Angelman syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior segment dysgenesis 3
Aortic aneurysm, familial thoracic 6
Aortic valve disease 1
Aplastic anemia
Argininosuccinate lyase deficiency
Arthrogryposis multiplex congenita 3, myogenic type
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Arts syndrome
Aspartylglucosaminuria
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Ataxia - oculomotor apraxia type 4
Ataxia-pancytopenia syndrome
Atrial fibrillation, familial, 9
Atrioventricular septal defect and common atrioventricular junction
Atypical glycine encephalopathy
Autism, susceptibility to, 15
Autism, susceptibility to, X-linked 3
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Autosomal dominant centronuclear myopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant nocturnal frontal lobe epilepsy 5
Autosomal dominant nonsyndromic hearing loss 65
Autosomal dominant optic atrophy classic form
Autosomal dominant osteopetrosis 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Parkinson disease 14
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Autosomal recessive complex spastic paraplegia type 9B
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 limb-girdle muscular dystrophy type 2P
Autosomal recessive limb-girdle muscular dystrophy type R18
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 70
Autosomal recessive nonsyndromic hearing loss 86
Autosomal recessive osteopetrosis 4
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 20
Axenfeld-Rieger syndrome type 3
Baraitser-Winter syndrome 1
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Basal ganglia calcification, idiopathic, 4
Beta-D-mannosidosis
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Bifunctional peroxisomal enzyme deficiency
Bilateral frontoparietal polymicrogyria
Bilateral parasagittal parieto-occipital polymicrogyria
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Blepharophimosis - intellectual disability syndrome, SBBYS type
Bohring-Opitz syndrome
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 3
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
CEDNIK syndrome
CHIME syndrome
COACH syndrome 1
COACH syndrome 2
COACH syndrome 3
CODAS syndrome
COG7 congenital disorder of glycosylation
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Carney-Stratakis syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Cerebellar atrophy, developmental delay, and seizures
Cerebral folate transport deficiency
Cerebro-costo-mandibular syndrome
Cerebrooculofacioskeletal syndrome 1
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 4
Cerebroretinal microangiopathy with calcifications and cysts 1
Cerebroretinal microangiopathy with calcifications and cysts 2
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, type IA
Chilblain lupus 1
Chilblain lupus 2
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood onset GLUT1 deficiency syndrome 2
Cholestanol storage disease
Christianson syndrome
Chromosome 2p16.3 deletion syndrome
Citrullinemia type I
Classic homocystinuria
Cobalamin C disease
Cobblestone lissencephaly without muscular or ocular involvement
Cockayne syndrome type 1
Cockayne syndrome type 2
Coenzyme Q10 deficiency, primary, 1
Cold-induced sweating syndrome 1
Combined PSAP deficiency
Combined deficiency of sialidase AND beta galactosidase
Combined malonic and methylmalonic acidemia
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation deficiency 32
Combined oxidative phosphorylation deficiency 39
Combined oxidative phosphorylation deficiency 40
Combined oxidative phosphorylation deficiency 44
Combined oxidative phosphorylation deficiency 45
Combined oxidative phosphorylation deficiency 48
Complex cortical dysplasia with other brain malformations 1
Complex cortical dysplasia with other brain malformations 4
Complex cortical dysplasia with other brain malformations 5
Congenital bile acid synthesis defect 3
Congenital bile acid synthesis defect 4
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital defect of folate absorption
Congenital disorder of deglycosylation 1
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type Ir
Congenital disorder of glycosylation, type IIr
Congenital hyperammonemia, type I
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular hypertrophy-cerebral syndrome
Congenital myasthenic syndrome 13
Conotruncal heart malformations
Constitutional megaloblastic anemia with severe neurologic disease
Corneal dystrophy, Fuchs endothelial, 3
Corpus callosum agenesis-abnormal genitalia syndrome
Cortical dysplasia, complex, with other brain malformations 10
Cortical dysplasia-focal epilepsy syndrome
Cowden syndrome 1
Craniometaphyseal dysplasia, autosomal recessive
Craniosynostosis 6
Creatine transporter deficiency
Cutis laxa, X-linked
Cutis laxa, autosomal dominant 3
Cystic leukoencephalopathy without megalencephaly
D,L-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
D-Glyceric aciduria
DE SANCTIS-CACCHIONE SYNDROME
DK1-congenital disorder of glycosylation
DOORS syndrome
DPAGT1-congenital disorder of glycosylation
DPM3-congenital disorder of glycosylation
DYRK1A-related intellectual disability syndrome
Deafness, X-linked 5
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of alpha-mannosidase
Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of beta-ureidopropionase
Deficiency of butyryl-CoA dehydrogenase
Deficiency of cytochrome-b5 reductase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of malonyl-CoA decarboxylase
Deficiency of phosphoserine phosphatase
Dejerine-Sottas disease
Delpire-McNeill syndrome
Dent disease type 2
Desmosterolosis
Developmental and epileptic encephalopathy 91
Developmental and epileptic encephalopathy 92
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 14
Developmental and epileptic encephalopathy, 16
Developmental and epileptic encephalopathy, 17
Developmental and epileptic encephalopathy, 19
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 23
Developmental and epileptic encephalopathy, 25
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 3
Developmental and epileptic encephalopathy, 34
Developmental and epileptic encephalopathy, 35
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 41
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 43
Developmental and epileptic encephalopathy, 44
Developmental and epileptic encephalopathy, 45
Developmental and epileptic encephalopathy, 5
Developmental and epileptic encephalopathy, 51
Developmental and epileptic encephalopathy, 53
Developmental and epileptic encephalopathy, 54
Developmental and epileptic encephalopathy, 55
Developmental and epileptic encephalopathy, 58
Developmental and epileptic encephalopathy, 62
Developmental and epileptic encephalopathy, 63
Developmental and epileptic encephalopathy, 64
Developmental and epileptic encephalopathy, 65
Developmental and epileptic encephalopathy, 69
Developmental and epileptic encephalopathy, 75
Developmental and epileptic encephalopathy, 77
Developmental and epileptic encephalopathy, 8
Developmental and epileptic encephalopathy, 80
Developmental and epileptic encephalopathy, 81
Developmental and epileptic encephalopathy, 82
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Developmental malformations-deafness-dystonia syndrome
DiGeorge syndrome
Diencephalic-mesencephalic junction dysplasia syndrome 1
Dilated cardiomyopathy 1GG
Dilated cardiomyopathy 1X
Dystonia 9
EAST syndrome
Early-onset Parkinson disease 20
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Ehlers-Danlos syndrome, type 4
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Encephalopathy due to GLUT1 deficiency
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
Encephalopathy, progressive, with amyotrophy and optic atrophy
Epilepsy, childhood absence, susceptibility to, 5
Epilepsy, familial focal, with variable foci 4
Epilepsy, idiopathic generalized, susceptibility to, 11
Epilepsy, idiopathic generalized, susceptibility to, 12
Epilepsy, idiopathic generalized, susceptibility to, 13
Epilepsy, idiopathic generalized, susceptibility to, 14
Epilepsy, idiopathic generalized, susceptibility to, 16
Episodic ataxia type 2
Episodic ataxia type 6
Erythrokeratodermia variabilis et progressiva 3
Ethylmalonic encephalopathy
Fabry disease
Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis 4
Familial hemophagocytic lymphohistiocytosis 5
Familial hyperaldosteronism type II
Familial infantile bilateral striatal necrosis
Familial infantile myoclonic epilepsy
Familial meningioma
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fanconi renotubular syndrome 5
Fatty acyl-CoA reductase 1 deficiency
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Fowler syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Fucosidosis
Fumarase deficiency
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GRACILE syndrome
Galactosylceramide beta-galactosidase deficiency
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 2, X-linked
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
Gamma-aminobutyric acid transaminase deficiency
Gastrointestinal stromal tumor
Gaucher disease due to saposin C deficiency
Generalized epilepsy-paroxysmal dyskinesia syndrome
Genitopatellar syndrome
Giant axonal neuropathy 1
Gillespie syndrome
Gillessen-Kaesbach-Nishimura syndrome
Glaucoma, normal tension, susceptibility to
Glaucoma, primary closed-angle
Glioma susceptibility 2
Glutaric aciduria, type 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease, type II
Glycosylphosphatidylinositol biosynthesis defect 21
Guillain-Barre syndrome, familial
HSD10 mitochondrial disease
Hao-Fountain syndrome
Hearing loss, X-linked 1
Hearing loss, autosomal dominant 71
Hearing loss, autosomal dominant 78
Hearing loss, autosomal recessive 94
Heimler syndrome 1
Heimler syndrome 2
Hemolytic anemia due to hexokinase deficiency
Hemorrhage, intracerebral, susceptibility to
Hepatic methionine adenosyltransferase deficiency
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary cryohydrocytosis with reduced stomatin
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary leiomyomatosis and renal cell cancer
Hereditary liability to pressure palsies
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 13
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia 2
Hereditary spastic paraplegia 26
Hereditary spastic paraplegia 28
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia 42
Hereditary spastic paraplegia 43
Hereditary spastic paraplegia 45
Hereditary spastic paraplegia 47
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia 50
Hereditary spastic paraplegia 51
Hereditary spastic paraplegia 54
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia 63
Hereditary spastic paraplegia 64
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia 74
Hereditary spastic paraplegia 75
Hereditary spastic paraplegia 77
Hereditary spastic paraplegia 9A
Hirschsprung disease, susceptibility to, 2
Holocarboxylase synthetase deficiency
Holoprosencephaly 12 with or without pancreatic agenesis
Holoprosencephaly 13, X-linked
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Houge-Janssens syndrome 2
Huppke-Brendel syndrome
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hyperammonemia, type III
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hyperekplexia 1
Hyperglycinuria
Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperostosis cranialis interna
Hyperphosphatasia with intellectual disability syndrome 1
Hypervalinemia and hyperleucine-isoleucinemia
Hypoalphalipoproteinemia, primary, 1
Hypomagnesemia, seizures, and intellectual disability 1
Hypomyelinating leukodystrophy 10
Hypomyelinating leukodystrophy 11
Hypomyelinating leukodystrophy 12
Hypomyelinating leukodystrophy 13
Hypomyelinating leukodystrophy 3
Hypomyelinating leukodystrophy 4
Hypomyelinating leukodystrophy 6
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypomyelination and Congenital Cataract
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypopigmentation, organomegaly, and delayed myelination and development
Hypoplastic left heart syndrome 1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypotonia with lactic acidemia and hyperammonemia
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Idiopathic basal ganglia calcification 1
Iminoglycinuria
Immunodeficiency 31B
Immunodeficiency 49
Immunodeficiency, developmental delay, and hypohomocysteinemia
Infantile GM1 gangliosidosis
Infantile cerebellar-retinal degeneration
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile neuroaxonal dystrophy
Infantile onset spinocerebellar ataxia
Inosine triphosphatase deficiency
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Intellectual developmental disorder, autosomal recessive 74
Intellectual disability, X-linked 102
Intellectual disability, X-linked 49
Intellectual disability, X-linked, with or without seizures, arx-related
Intellectual disability, autosomal dominant 20
Intellectual disability, autosomal dominant 24
Intellectual disability, autosomal dominant 29
Intellectual disability, autosomal dominant 8
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal recessive 13
Intellectual disability, autosomal recessive 42
Intellectual disability, autosomal recessive 53
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Isolated focal cortical dysplasia type II
Isolated sedoheptulokinase deficiency
Isovaleryl-CoA dehydrogenase deficiency
Jaberi-Elahi syndrome
Joubert syndrome 1
Joubert syndrome 17
Joubert syndrome 2
Joubert syndrome 21
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 28
Joubert syndrome 3
Joubert syndrome 38
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 9
Joubert syndrome with renal defect
Juvenile nephropathic cystinosis
Kahrizi syndrome
Keutel syndrome
Kilquist syndrome
Kleefstra syndrome 1
Knobloch syndrome
Krabbe disease due to saposin A deficiency
Kufor-Rakeb syndrome
L-2-hydroxyglutaric aciduria
Leber congenital amaurosis 10
Lethal congenital contracture syndrome 7
Leukodystrophy and acquired microcephaly with or without dystonia;
Leukodystrophy, hypomyelinating, 14
Leukodystrophy, hypomyelinating, 16
Leukodystrophy, hypomyelinating, 17
Leukodystrophy, hypomyelinating, 18
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
Leukoencephalopathy, progressive, with ovarian failure
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Liang-Wang syndrome
Lichtenstein-Knorr syndrome
Limb-girdle muscular dystrophy due to POMK deficiency
Linear skin defects with multiple congenital anomalies 1
Linear skin defects with multiple congenital anomalies 2
Linear skin defects with multiple congenital anomalies 3
Lipoic acid synthetase deficiency
Lipoyl transferase 1 deficiency
Lissencephaly 8
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly type 1 due to doublecortin gene mutation
Lowe syndrome
Lung cancer
Lymphangiomyomatosis
Lymphoma, non-Hodgkin, familial
MORM syndrome
Macrocephaly, dysmorphic facies, and psychomotor retardation
Macrocephaly-autism syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Macular dystrophy with central cone involvement
Malignant tumor of esophagus
Malignant tumor of prostate
Maple syrup urine disease
Martsolf syndrome 1
Martsolf syndrome 2
Meckel syndrome, type 1
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Meckel syndrome, type 8
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Meier-Gorlin syndrome 6
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Menke-Hennekam syndrome 1
Menkes kinky-hair syndrome
Merosin deficient congenital muscular dystrophy
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Metachromatic leukodystrophy
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylmalonate semialdehyde dehydrogenase deficiency
Methylmalonic acidemia with homocystinuria, type cblJ
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Microcephalic primordial dwarfism due to RTTN deficiency
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephaly 15, primary, autosomal recessive
Microcephaly, epilepsy, and diabetes syndrome 1
Microcephaly, seizures, and developmental delay
Microcephaly, short stature, and impaired glucose metabolism 1
Microcephaly, short stature, and impaired glucose metabolism 2
Microcephaly-capillary malformation syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microphthalmia with brain and digit anomalies
Migraine, familial hemiplegic, 1
Mitchell syndrome
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 8a
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial complex 1 deficiency, nuclear type 11
Mitochondrial complex 1 deficiency, nuclear type 12
Mitochondrial complex 1 deficiency, nuclear type 13
Mitochondrial complex 1 deficiency, nuclear type 14
Mitochondrial complex 1 deficiency, nuclear type 16
Mitochondrial complex 1 deficiency, nuclear type 17
Mitochondrial complex 1 deficiency, nuclear type 18
Mitochondrial complex 1 deficiency, nuclear type 19
Mitochondrial complex 1 deficiency, nuclear type 2
Mitochondrial complex 1 deficiency, nuclear type 21
Mitochondrial complex 1 deficiency, nuclear type 22
Mitochondrial complex 1 deficiency, nuclear type 23
Mitochondrial complex 1 deficiency, nuclear type 24
Mitochondrial complex 1 deficiency, nuclear type 25
Mitochondrial complex 1 deficiency, nuclear type 27
Mitochondrial complex 1 deficiency, nuclear type 29
Mitochondrial complex 1 deficiency, nuclear type 3
Mitochondrial complex 1 deficiency, nuclear type 30
Mitochondrial complex 1 deficiency, nuclear type 31
Mitochondrial complex 1 deficiency, nuclear type 32
Mitochondrial complex 1 deficiency, nuclear type 33
Mitochondrial complex 1 deficiency, nuclear type 4
Mitochondrial complex 1 deficiency, nuclear type 5
Mitochondrial complex 1 deficiency, nuclear type 6
Mitochondrial complex 1 deficiency, nuclear type 7
Mitochondrial complex 1 deficiency, nuclear type 8
Mitochondrial complex 1 deficiency, nuclear type 9
Mitochondrial complex 2 deficiency, nuclear type 2
Mitochondrial complex 2 deficiency, nuclear type 3
Mitochondrial complex 2 deficiency, nuclear type 4
Mitochondrial complex 4 deficiency, nuclear type 10
Mitochondrial complex 4 deficiency, nuclear type 11
Mitochondrial complex 4 deficiency, nuclear type 12
Mitochondrial complex 4 deficiency, nuclear type 15
Mitochondrial complex 4 deficiency, nuclear type 3
Mitochondrial complex 4 deficiency, nuclear type 7
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex III deficiency nuclear type 2
Mitochondrial complex III deficiency nuclear type 8
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Monosomy 7 myelodysplasia and leukemia syndrome 1
Mowat-Wilson syndrome
Moyamoya disease 5
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis-plus syndrome
Mullegama-Klein-Martinez syndrome
Multiple acyl-CoA dehydrogenase deficiency
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
Multiple mitochondrial dysfunctions syndrome 3
Multiple mitochondrial dysfunctions syndrome 4
Multiple sulfatase deficiency
Multiple system atrophy 1, susceptibility to
Multisystemic smooth muscle dysfunction syndrome
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 A9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
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
Myasthenic syndrome, congenital, 23, presynaptic
Myelodysplastic syndrome
Myeloproliferative disorder, chronic, with eosinophilia
Myofibromatosis, infantile, 1
Myopathy, distal, with rimmed vacuoles
Myopia 6
NAD(P)HX dehydratase deficiency
Neonatal pseudo-hydrocephalic progeroid syndrome
Neonatal-onset encephalopathy with rigidity and seizures
Nephronophthisis 1
Nephronophthisis 11
Nephropathic cystinosis
Neu-Laxova syndrome 1
Neu-Laxova syndrome 2
Neural tube defects, folate-sensitive
Neurodegeneration with ataxia and late-onset optic atrophy
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 4
Neurodegeneration with brain iron accumulation 5
Neurodegeneration with brain iron accumulation 6
Neurodegeneration with brain iron accumulation 7
Neurodegeneration with brain iron accumulation 8
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Neurodevelopmental disorder with involuntary movements
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Neurodevelopmental disorder with visual defects and brain anomalies
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuropathy, congenital hypomyelinating, 2
Neuropathy, congenital hypomyelinating, 3
Neuropathy, hereditary motor and sensory, type 6B
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Neutral 1 amino acid transport defect
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Non-ketotic hyperglycinemia
Noonan syndrome-like disorder with loose anagen hair 1
O'Donnell-Luria-Rodan syndrome
Obesity, hyperphagia, and developmental delay
Ocular cystinosis
Oculocerebrodental syndrome
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Optic atrophy 11
Optic atrophy 3
Optic atrophy 5
Optic atrophy 9
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency
Orofacial cleft 11
Orofaciodigital syndrome XV
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 6
Otofaciocervical syndrome 2
Ovarian dysgenesis 7
PCWH syndrome
PEHO-like syndrome
PERCHING syndrome
PHGDH deficiency
PSAT deficiency
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Paget disease of bone 3
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Paragangliomas 1
Paragangliomas 4
Paragangliomas 5
Parkinson disease 24, autosomal dominant, susceptibility to
Paroxysmal nocturnal hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria 2
Partington syndrome
Pelizaeus-Merzbacher disease
Pendred syndrome
Periventricular heterotopia with microcephaly, autosomal recessive
Peroxisome biogenesis disorder 12A (Zellweger)
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder 14B
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
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Pettigrew syndrome
Phenylketonuria
Pheochromocytoma
Phosphoribosylpyrophosphate synthetase superactivity
Phytanic acid storage disease
Pigmentary pallidal degeneration
Pili torti-deafness syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome 2
Polyendocrine-polyneuropathy syndrome
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Polymicrogyria, bilateral perisylvian, autosomal recessive
Pontocerebellar hypoplasia type 10
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia, type 12
Pontocerebellar hypoplasia, type 1C
Pontocerebellar hypoplasia, type 1D
Pontocerebellar hypoplasia, type 1E
Porencephaly 2
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Portal hypertension, noncirrhotic, 1
Premature ovarian failure 11
Primary coenzyme Q10 deficiency 8
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Progressive demyelinating neuropathy with bilateral striatal necrosis
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Progressive myoclonic epilepsy type 3
Progressive sclerosing poliodystrophy
Proline dehydrogenase deficiency
Propionic acidemia
Proximal myopathy with extrapyramidal signs
Pseudo-TORCH syndrome 3
Pulmonary hypertension, neonatal, susceptibility to
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
RHYNS syndrome
RIN2 syndrome
Rajab interstitial lung disease with brain calcifications 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Renal hypomagnesemia 6
Retinal arterial tortuosity
Retinal dystrophy with leukodystrophy
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa 42
Retinitis pigmentosa 76
Retinitis pigmentosa 79
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Rett syndrome
Rett syndrome, congenital variant
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 5
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rothmund-Thomson syndrome, type 3
Roussy-Lévy syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
SLC35A2-congenital disorder of glycosylation
SLC39A8-CDG
SRD5A3-congenital disorder of glycosylation
SSR4-congenital disorder of glycosylation
Salla disease
Sandhoff disease
Schinzel-Giedion syndrome
Schizophrenia
Schizophrenia 4
Schuurs-Hoeijmakers syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 6
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe X-linked mitochondrial encephalomyopathy
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe neonatal-onset encephalopathy with microcephaly
Shashi-Pena syndrome
Short QT syndrome type 3
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Short-rib thoracic dysplasia 14 with polydactyly
Short-rib thoracic dysplasia 21 without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Sialic acid storage disease, severe infantile type
Sideroblastic anemia 3
Singleton-Merten syndrome 1
Sjögren-Larsson syndrome
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Spastic ataxia 2
Spastic ataxia 3
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Spastic paraplegia 52, autosomal recessive
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic tetraplegia and axial hypotonia, progressive
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spasticity-ataxia-gait anomalies syndrome
Specific language impairment 5
Sphingolipid activator protein 1 deficiency
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 6
Spinocerebellar ataxia, autosomal recessive 24
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia, Bieganski type
Spondyloepimetaphyseal dysplasia, Genevieve type
Spongy degeneration of central nervous system
Stargardt disease 3
Structural brain anomalies with impaired intellectual development and craniosynostosis
Stuttering, familial persistent, 1
Succinate-semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Susceptibility to mononeuropathy of the median nerve, mild
Symmetrical dyschromatosis of extremities
Syndactyly type 3
Syndromic X-linked intellectual disability Hedera type
Syndromic X-linked intellectual disability Lubs type
Syndromic X-linked intellectual disability Nascimento type
Systemic lupus erythematosus
TMEM165-congenital disorder of glycosylation
Tangier disease
Tay-Sachs disease
Tay-Sachs disease, variant AB
Temtamy syndrome
Tetralogy of Fallot
Thrombophilia due to thrombin defect
Torsion dystonia 4
Treacher Collins syndrome 3
Trichothiodystrophy 1, photosensitive
Trichothiodystrophy 2, photosensitive
Trichothiodystrophy 3, photosensitive
Trichothiodystrophy 4, nonphotosensitive
Triglyceride storage disease with ichthyosis
Triosephosphate isomerase deficiency
Troyer syndrome
Tuberous sclerosis 1
Tuberous sclerosis 2
Turnpenny-fry syndrome
UV-sensitive syndrome 1
UV-sensitive syndrome 2
Vanishing white matter disease
Velocardiofacial syndrome
Ventriculomegaly and arthrogryposis
Vici syndrome
Vissers-Bodmer syndrome
Waardenburg syndrome type 2E
Waardenburg syndrome type 4A
Waardenburg syndrome type 4C
Warburg micro syndrome 1
Warburg micro syndrome 2
Wilson disease
Woodhouse-Sakati syndrome
X-linked distal spinal muscular atrophy type 3
X-linked intellectual disability Cabezas type
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked lissencephaly with abnormal genitalia
X-linked parkinsonism-spasticity syndrome
Xeroderma pigmentosum group B
Xeroderma pigmentosum, group D
Yunis-Varon syndrome
ZTTK syndrome
AARS2 (6p21.1);
ABAT (16p13.2);
ABCA1 (9q31.1);
ABCD1 (Xq28);
ABCD4 (14q24.3)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed …
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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55002
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: 971
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 680
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Therapeutic management
Target population:
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The Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed to offer a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement. This panel also evaluates genes associated with conditions that do not fit the …
The Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed to offer a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement. This panel also evaluates genes associated with conditions that do not fit the strict definition of leukodystrophy, but nevertheless affect the white matter of the brain, such as certain inborn errors of metabolism, congenital muscular dystrophies with significant white matter involvement, progressive neurodegenerative disorders, and other neuronal disorders that affect myelination. Multiple nuclear-encoded genes associated with mitochondrial dysfunction that may result in white matter abnormalities have been included, however mitochondrial DNA is not evaluated by this panel. Conditions associated with repeat expansions are not included on this panel. This panel includes genes that confer risk for both an autosomal recessive leukodystrophy and an autosomal dominant increased risk for cancer (i.e. FH, MDH2, PTEN, SAMD9L, SDHA, SDHB, SETBP1, SHOC2, TSC1, TSC2). This panel includes genes associated with both childhood onset and adult onset conditions, such as CSF1R, AARS, AP5Z1, SQSTM1 and PDGFRB. When ordering this panel, you can de-select these genes to exclude them from the analysis.
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the …
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the ordering clinician to evaluate our conclusions.
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Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Will the lab re-contact the ordering physician if variant interpretation changes?
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Recommended fields not provided:
Clinical validity,
Clinical utility,
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
