Card kit

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Test code: 55002 •

Test description

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.

Disorders tested

  • AARS-related early infantile epileptic encephalopathy
  • Progressive leukoencephalopathy with ovarian failure, Oxidative phosphorylation deficiency 8
  • GABA-transaminase deficiency
  • Tangier disease
  • X-linked adrenoleukodystrophy (X-ALD)
  • Methylmalonic aciduria and homocystinuria due to cobalamin J (cblJ) deficiency
  • Chanarin-Dorfman syndrome
  • Short chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Cone-rod dystrophy and white matter disease
  • ACER3-related leukodystrophy
  • ACO2-related conditions
  • Acyl-CoA oxidase deficiency
  • Spondyloenchondrodysplasia with immune dysregulation
  • Combined malonic and methylmalonic aciduria (CMAMMA)
  • Thoracic aortic aneurysms and dissections (TAAD)
  • ACTB-related conditions:
    • Baraitser-Winter syndrome
    • Juvenile onset dystonia
  • Aminoacylase-1 deficiency
  • Aicardi Goutieres syndrome
  • Polymicrogyria
  • Adenosine kinase deficiency
  • Helsmoortel-Van der Aa Syndrome (HVDAS)
  • Adenylosuccinate lyase deficiency (ADSL)
  • Aspartylglucosaminuria
  • Xia-Gibbs syndrome (XGS)
  • Joubert syndrome
  • X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy, X-linked combined oxidative phosphorylation deficiency 6
  • Hypomyelinating leukodystrophy-3
  • Hypomyelinating leukodystrophy-17
  • ALDH18A1-related conditions:
    • Delta-pyrroline-5-carboxylate synthetase (P5CS) deficiency,
    • Cutis laxa (ADCL3 and ARCL3A),
    • Spastic paraplegia (SPG9A and SPG9B)
  • Sjögren-Larsson syndrome
  • Succinic semialdehyde dehydrogenase deficiency (SSADH)
  • Methylmalonate semialdehyde dehydrogenase deficiency
  • ALG12-congenital disorder of glycosylation (ALG12-CDG, CDG-Ig)
  • ALG13-congenital disorder of glycosylation (CDG-Is)
  • Congenital disorder of glycosylation, ALG2-CDG (CDG-Ii)
  • ALG6-congenital disorder of glycosylation (CDG-Ic)
  • ALG9-congenital disorder of glycosylation (ALG9-CDG, CDG-IL)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Pontocerebellar hypoplasia, type 9 (PCH9); Hereditary spastic paraplegia 63 (SPG63)
  • Glycine encephalopathy
  • ANK3-related intellectual disability syndrome
  • Pettigrew syndrome
  • Developmental and epileptic encephalopathy 48
  • Hereditary spastic paraplegia 47 (HSP47/SPG51)
  • Hereditary spastic paraplegia 51 (HSP51/SPG51)
  • Hereditary spastic paraplegia 50 (HSP50/SPG50); Neurodegeneration with brain iron accumulation
  • Hereditary spastic paraplegia 52 (HSP52/SPG52)
  • Hereditary spastic paraplegia 48 (HSP48/SPG48)
  • Complex cortical dysplasia with other brain malformations
  • Mitochondrial complex IV deficiency, Cavitating leukodystrophy
  • Rhizomelic short stature with microcephaly, micrognathia and developmental delay; ARCN1-congenital disorder of glycosylation (ARCN1-CDG)
  • Periventricular heterotopia
  • Adams-Oliver syndrome (AOS)
  • Hereditary hyperekplexia, Early infantile epileptic encephalopathy 8 (EIEE8)
  • Webb-Dattani syndrome
  • Metachromatic leukodystrophy
  • West syndrome, Early infantile epileptic encephalopathy (EIEE), X-linked lissencephaly with ambiguous genitalia (XLAG)
  • Argininosuccinate lyase deficiency
  • Asparagine synthetase deficiency (ASNS)
  • Canavan disease
  • Citrullinemia type I
  • Bohring-Opitz syndrome (BOS)
  • Shashi-Pena syndrome
  • Kufor-Rakeb syndrome (KRS); Spastic paraplegia (SPG78)
  • ATP5A1-related conditions:
    • Mitochondrial complex V (ATP synthase) deficiency nuclear type 4;
    • Combined oxidative phosphorylation deficiency 22;
    • Schizophrenia
  • ATP6AP2-related conditions:
    • X-linked intellectual disability with epilepsy (MRXE)
    • Glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC)
  • Epileptic encephalopathy of childhood onset (EEOC), ATP6V1A-congenital disorder of glycosylation (ATP6V1A-CDG), Cutis laxa type 2D (ARCL2D)
  • Menkes disease (MD), Occipital Horn syndrome (OHS), Charcot-Marie-Tooth distal hereditary motor neuropathy
  • Wilson disease
  • Cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4)
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 1
  • ATRN-related hypomyelinating leukodystrophy
  • Alpha-thalassemia X-linked intellectual disability syndrome
  • 3-Methylglutaconic aciduria type 1
  • Muscular dystrophy-dystroglycanopathy type A11 (MDDGA11)
  • B4GALNT1-congenital disorder of glycosylation (B4GALNT1-CDG), Hereditary spastic paraplegia (SPG26)
  • X-linked deafness, dystonia, and cerebral hypomyelination syndrome
  • BCAT2-associated hypervalinemia, Hyperleucine-isoleucinemia
  • Maple syrup urine disease (MSUD)
  • BCL11B deficiency
  • BCS1L-related conditions
  • Spinal muscular atrophy, lower extremity predominant 2A and 2B
  • BMP4-related microphthalmia
  • Multiple mitochondrial dysfunctions syndrome 2 (MMDS2)
  • BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  • Neonatal-lethal rigidity and multifocal seizure syndrome
  • Biotinidase deficiency
  • Temtamy syndrome
  • Hereditary spastic paraplegia 55 (HSP55/SPG55), Combined oxidative phosphorylation deficiency 7
  • Membrane protein-associated neurodegeneration (MPAN), Hereditary spastic paraplegia (HSP43/SPG43)
  • Early onset infantile epileptic encephalopathy (EIEE), Episodic ataxia type 2 (EA2), Familial hemiplegic migraine type I (FHM1)
  • Developmental and epileptic encephalopathy (early infantile epileptic encephalopathy, EIEE)
  • Combined oxidative phosphorylation deficiency 27
  • Homocystinuria due to cystathionine beta-synthase (CBS) deficiency
  • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
  • Takenouchi-Kosaki syndrome
  • CDKL5-related disorders:
    • Early infantile epileptic encephalopathy (EIEE)
    • West syndrome
    • atypical Rett syndrome
    • Angelman-like syndrome
  • CEP290-related conditions:
    • Leber congenital amaurosis (LCA)
    • Joubert syndrome
    • Bardet-Biedl syndrome
  • Pontocerebellar hypoplasia type 8
  • Leukoencephalopathy with ataxia
  • X-linked developmental and epileptic encephalopathy, Early infantile epileptic encephalopathy (EIEE), X-linked intellectual disability
  • Hypopigmentation, organomegaly, with delayed myelination and development (HOD); Osteopetrosis
  • Neuronal ceroid lipofuscinosis type 3 (CLN3)
  • Neuronal ceroid lipofuscinosis type 5 (CLN5)
  • Neuronal ceroid lipofuscinosis type 6 (CLN6)
  • Neuronal ceroid lipofuscinosis type 8 (CLN8)
  • Pontocerebellar hypoplasia type 10
  • Perrault syndrome 3
  • Hypomagnesemia, seizures and intellectual disability
  • CNOT1-related neurodevelopmental disorder (Vissers Bodman syndrome); Holoprosencephaly with or without pancreatic agenesis
  • Lethal congenital contracture syndrome 7; Congenital hypomyelinating neuropathy 3 (CHN)
  • Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins-like syndrome
  • Spinocerebellar ataxia with axonal neuropathy-3
  • COASY protein-associated neurodegeneration (CoPan)
  • COG7-congenital disorder of glycosylation (CDG-IIe)
  • Knobloch syndrome
  • Vascular Ehlers-Danlos syndrome; Polymicrogyria with/without vascular EDS
  • COL4A1-related disorders
  • Brain small vessel disease 2 with or without ocular anomalies (BSVD2)
  • Cerebral small vessel disease 3
  • Adams-Oliver syndrome
  • Complex IV deficiency
  • Linear skin defects with multiple congenital anomalies
  • CPLX1-related early infantile epileptic encephalopathy
  • Carbamoyl phosphate synthetase 1 (CPS1) deficiency
  • Neurodegeneration with brain iron accumulation, Carnitine transferase deficiency
  • Rubinstein-Taybi syndrome
  • Short stature with microcephaly and distinctive facies
  • Cold-induced sweating syndrome (CISS); Crisponi syndrome
  • Hereditary diffuse leukoencephalopathy with spheroids (HDLS)
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
  • Cerebroretinal microangiopathy with calcifications and cysts type 1 (Coats plus syndrome)
  • Congenital cataracts with facial dysmorphism and neuropathy
  • Cystinosis
  • Galactosialidosis
  • Neuronal ceroid lipofuscinosis type 10 (CLN10)
  • Cabezas type intellectual disability syndrome
  • Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency (CYB5R)
  • Cerebrotendinous xanthomatosis
  • Hereditary spastic paraplegia 56 (HSP56/SPG56)
  • CYP7B1-related conditions:
    • Hereditary spastic paraplegia type 5A (SPG5A)
    • Congenital bile acid synthesis defect type 3 (CBAS3)
  • D-2-hydroxyglutaric aciduria
  • Muscular dystrophy-dystroglycanopathy type A9
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL)
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • Woodhouse-Sakati syndrome (WSS)
  • X-linked lissencephaly and subcortical band heterotopia (SBH)
  • Aromatic L-amino acid decarboxylase deficiency (AADC)
  • Hereditary spastic paraplegia 28 (HSP28/SPG28); Juvenile amyotrophic lateral sclerosis (JALS)
  • Hereditary spastic paraplegia 54 (HSP54/SPG54)
  • DDOST-congenital disorder of glycosylation (CDG-Ir)
  • DDX3X-related intellectual disability syndrome
  • Neurodevelopmental disorder with hypotonia, impaired expressive language with or without seizures; Vulto-van Silfhout-de Vries syndrome
  • Hypomyelinating leukodystrophy 18
  • DGUOK-related conditions
  • Desmosterolosis
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; 46, XY sex reversal 11
  • Dihydrolipoamide dehydrogenase deficiency (DLD)
  • DMXL2-related conditions
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1)
  • Lethal congenital contracture syndrome 5
  • Aicardi-Goutieres syndrome
  • Developmental and epileptic encephalopathy 23
  • DOLK-congenital disorder of glycosylation (CDG-1m)
  • Microcephaly-micromelia syndrome
  • Congenital myasthenic syndrome 13 (CMS13); DPAGT1-congenital disorder of glycosylation (CDG-Ij)
  • DPM1-congenital disorder of glycosylation (DPM1-CDG, CDG-Ie)
  • DPM2-congenital disorder of glycosylation (DPM2-CDG, CDG-Iu)
  • DPM3-congenital disorder of glycosylation (DPM1-CDG, CDG-Io)
  • Dihydropyrimidinase (DPYS) deficiency
  • Intellectual disability disorder 7
  • Combined oxidative phosphorylation deficiency 12
  • Waardenburg syndrome type 4A (WS4A)
  • Kleefstra syndrome
  • EIF2AK1-related leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
  • EIF2AK2-related leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
  • Leukoencephalopathy with vanishing white matter
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
  • Spinocerebellar ataxia 34 (erythrokeratodermia with ataxia); Ichthyosis, spastic quadriplegia, and intellectual disability
  • Hereditary spastic paraplegia 64 (HSP64/SPG64)
  • Adams-Oliver syndrome (AOS); Congenital disorders of glycosylation (EOGT-CDG)
  • Vici syndrome
  • Hypomyelinating leukodystrophy 15
  • Cockayne syndrome; Xeroderma pigmentosum
  • Photosensitive trichothiodystrophy; Xeroderma pigmentosum group D
  • Xeroderma pigmentosum group B
  • Cockayne syndrome B
  • Cockayne syndrome A
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia type II)
  • Ethylmalonic encephalopathy
  • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
  • Pontocerebellar hypoplasia (PCH) type 1B
  • Pontocerebellar hypoplasia 1C
  • Pontocerebellar hypoplasia 1D
  • Fatty acid hydroxylase-associated neurodegeneration (FAHN) (Hereditary spastic paraplegia 35)
  • Hypomyelination and congenital cataracts (HCC)
  • Peroxisomal fatty acyl-CoA reductase 1 deficiency; FAR1-related neurological condition
  • Hereditary spastic paraplegia 77, Combined oxidative phosphorylation deficiency 14
  • Rajab interstitial lung disease with brain calcifications
  • Mitochondrial DNA depletion syndrome 13, encephalomyopathic type
  • FDX2-related mitochondrial myopathy
  • Arthrogryposis
  • Fumarate hydratase deficiency
  • Yunis-Varon syndrome
  • Muscular dystrophy-dystroglycanopathy type A5 (MDDGA5), type B5 (MDDGB5) and type C5 (MDDGC5)
  • Muscular dystrophy-dystroglycanopathy type A4 (Fukuyama congenital muscular dystrophy), type B4, and type C4
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Cerebral folate deficiency
  • Axenfeld-Rieger syndrome (ARS)
  • Congenital/atypical Rett syndrome
  • Mitochondrial complex I deficiency, nuclear type 19
  • Fucosidosis
  • Congenital disorder of glycosylation with defective fucosylation
  • Pompe disease (GSDII)
  • GABBR2-related conditions:
    • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy)
    • Rett syndrome
  • GABRA1-related conditions:
    • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy)
    • Childhood absence epilepsy (CAE)
    • Juvenile myoclonic epilepsy (JME)
  • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy)
  • GABRB2-related intellectual disability and epilepsy
  • GABRB3-related conditions:
    • Childhood absence epilepsy (CAE)
    • generalized epilepsy with febrile seizures plus (GEFS+)
    • Familial febrile seizures
    • Developmental and epileptic encephalopathy (DEE)
  • Krabbe disease
  • Galactosemia
  • Giant axonal neuropathy 1
  • GAND syndrome
  • Glutaric acidemia type I
  • GDAP1 related Charcot-Marie Tooth disease
  • Alexander disease
  • Combined oxidative phosphorylation deficiency 1
  • Combined oxidative phosphorylation deficiency 39
  • GJA1-related conditions:
    • Oculodentodigital dysplasia (ODDD)
    • Erythrokeratodermia variabilis et progressiva (EKPV)
    • Craniometaphyseal dysplasia
    • Syndactyly type 3
    • Structural heart defects
  • X-linked Charcot-Marie-Tooth disease type 1X (CMT1X)
  • Hereditary spastic paraplegia 44 (HSP44/SPG44);
    Hypomyelinating leukodystrophy 2 (HLD, Pelizaeus-Merzbacher-like disease)
  • Fabry disease
  • GM1 gangliosidosis, Mucopolysaccharidosis IVB (MPSIVB) (Morquio B)
  • Childhood-onset spasticity with hyperglycinemia (SPAHGC)
  • Glutamine synthetase deficiency
  • D-glyceric aciduria
  • GM2-gangliosidosis, AB variant
  • Meier-Gorlin syndrome
  • Early infantile epileptic encephalopathy; Neurodevelopmental disorder with involuntary movements (NEDIM)
  • Mucopolysaccharidosis type IIID (MPS IIID) (Sanfilippo syndrome D)
  • Developmental and epileptic encephalopathy
  • Early infantile epileptic encephalopathy (EIEE); Intellectual disability (ID)
  • GRM7-related leukodystrophy
  • Trichothiodystrophy (TTD)
  • Jaberi-Elahi syndrome
  • Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS)
  • Developmental and epileptic encephalopathy (DEE); Genetic epilepsy with febrile seizures plus (GEFS+)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A and 2B
  • HERC1-related neurodevelopmental disorder
  • Tay-Sachs disease
  • Sandhoff disease
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency
  • Hypomyelinating leukodystrophy 13
  • HK1-related conditions
  • Holocarboxylase synthetase deficiency
  • 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency
  • Early infantile epileptic encephalopathy (EIEE)
  • 2-Methyl-3-hydroxybutyric aciduria
  • D-bifunctional protein deficiency (DBP), Perrault syndrome
  • Hereditary spastic paraplegia 13, Hypomyelinating leukodystrophy 4 (MitCHAP60 disease)
  • Growth restriction, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH)
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS), Isolated pediatric cataracts
  • Multiple mitochondrial dysfunctions syndrome 3 (MMDS3)
  • D-2-hydroxyglutaric aciduria type 2
  • Mucopolysaccharidosis type II (MPSII) (Hunter syndrome)
  • Mucopolysaccharidosis type I (MPS I) (Hurler-Scheie syndrome)
  • Microcephaly, epilepsy, and diabetes syndrome (MEDS)
  • Early onset neurodegeneration with choreoathetoid movements and microcytic anemia
  • Multiple mitochondrial dysfunctions syndrome 5 (MMDS5)
  • Multiple mitochondrial dysfunctions syndrome 4 (MMDS4)
  • Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency
  • Spinocerebellar ataxia type 15; Spinocerebellar ataxia type 29; Gillespie syndrome
  • Isovaleric acidemia
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
  • Syndromic deafness with mitochondrial features
  • Genitopatellar syndrome (GPS); Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS)
  • KATNB1-related cortical malformations and microcephaly
  • SeSAME syndrome (EAST syndrome)
  • Andersen-Tawil syndrome (long QT syndrome 7); Short QT syndrome
  • Generalized epilepsy and paroxysmal dyskinesia (GEPD); Developmental and epileptic encephalopathy
  • KCNT1-related early infantile epileptic encephalopathy, Nocturnal frontal lobe epilepsy (ADNFLE)
  • Neuronal ceroid lipofuscinosis type 14 (CLN14) (Progressive myoclonic epilepsy with or without intracellular inclusions)
  • KDM1A-related neurodevelopmental condition
  • Spastic paraplegia, nystagmus and obesity
  • Hereditary sensory neuropathy type 2C (HSN2C); Spastic paraplegia 30 (SPG30); Complicated spastic paraplegia and intellectual disability 9 (ID9)
  • Spastic ataxia type 2
  • KHR7-related retinitis pigmentosa; PERCHING syndrome; Bohring-Opitz-like syndrome
  • KMT2E-related neurodevelopmental disorder (O’Donnell-Luria-Rodan syndrome)
  • L-2-hydroxyglutaric aciduria
  • Galloway-Mowat syndrome
  • Poretti-Boltshauser syndrome (cerebellar dysplasia with cysts)
  • LAMA2-related muscular dystrophy (LAMA2 MD)
  • LAMB1-related lissencephaly
  • Muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) and B6 (MDDGB6)
  • LARS2-related Perrault syndrome, LARS2-related hydrops, lactic acidosis, and sideroblastic anemia
  • LETM1-related mitochondrial encephalomyopathy
  • Hyperglycinemia, lactic acidosis and seizures (HGCLAS), Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
  • Lipoyltransferase 1 deficiency
  • Neonatal encephalopathy with lactic acidosis and brain anomalies (NELABA)
  • Cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome
  • Mitochondrial complex IV deficiency (French Canadian type Leigh syndrome)
  • Mitochondrial complex III deficiency, nuclear type 8
  • Spastic paraplegia 75
  • Schaaf-Yang syndrome
  • Alpha-mannosidosis
  • Beta-mannosidosis
  • Combined oxidative phosphorylation deficiency 25, Spastic ataxia 3
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM)
  • Hypermethioninemia
  • 3 Methylcrotonyl-CoA carboxylase deficiency (3MCC)
  • Mucolipidosis type IV
  • MDH2-related developmental and epileptic encephalopathy; Pheochromocytoma/Paraganglioma
  • Rett syndrome
  • Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA)
  • Basel-Vanagaite-Smirin-Yosef syndrome; Charcot-Marie-Tooth disease type 2B2
  • MEF2C-related syndromic intellectual disability
  • MFSD2A-related primary microcephaly
  • Neuronal ceroid lipofuscinosis type 7 (CLN7), Retinal dystrophy
  • Keutel syndrome
  • Myopathy with extrapyramidal sign
  • Megalencephalic leukoencephalopathy with subcortical cysts 1
  • Malonyl-CoA decarboxylase deficiency
  • Methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency
  • Methylmalonic aciduria with homocystinuria due to cobalamin D (cblD) deficiency
  • MOGS-congenital disorder of glycosylation (MOGS-CDG, CDG-IIb)
  • Charcot-Marie-Tooth disease type 2Z; MORC2-related spinal muscular atrophy
  • Non-photosensitive trichothiodystrophy (TTD)
  • Mitochondrial DNA depletion syndrome (MDS)
  • Congenital hypomyelinating neuropathy 2
  • Combined oxidative phosphorylation deficiency 45
  • Combined oxidative phosphorylation deficiency 16
  • Combined oxidative phosphorylation deficiency 2 (COXPD2)
  • Combined oxidative phosphorylation deficiency 5 (COXPD5)
  • Combined oxidative phosphorylation deficiency 32 (COXPD32)
  • Mitochondrial myopathy and ataxia
  • Combined oxidative phosphorylation deficiency 15 (COXPD15)
  • Severe MTHFR deficiency
  • MTHFS-related neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
  • Combined oxidative phosphorylation deficiency 10 (COXPD10)
  • Smith-Kingsmore syndrome (SKS)
  • Cobalamin G (cblG) deficiency
  • Cobalamin E (cblE) deficiency
  • Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
  • NACC1-related infantile epilepsy, cataracts, and developmental delay
  • 2,4-dienoyl-CoA reductase deficiency (DECRD)
  • Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency (Schindler disease)
  • Mucopolysaccharidosis type IIIB (MPS IIIB) (Sanfilippo syndrome B)
  • N-acetylglutamate synthase (NAGS) deficiency
  • NANS-congenital disorder of glycosylation (NANS-CDG); Spondyloepimetaphyseal dysplasia syndrome
  • Combined oxidative phosphorylation deficiency 24 (COXPD24)
  • Progressive encephalopathy with brain edema and leukoencephalopathy-2
  • Progressive, early-onset encephalopathy with brain edema and/or leukoencephalopathy 1
  • Charcot-Marie-Tooth disease type 4D
  • Mitochondrial complex I deficiency, nuclear type 12
  • Mitochondrial complex I deficiency, nuclear type 22
  • Mitochondrial complex I deficiency, nuclear type 14
  • Mitochondrial complex I deficiency, nuclear type 23
  • Mitochondrial complex I deficiency
  • Mitochondrial complex I deficiency, nuclear type 13
  • Mitochondrial complex IV deficiency
  • Mitochondrial complex I deficiency, nuclear type 33
  • Mitochondrial complex I deficiency, nuclear type 26
  • Mitochondrial complex I deficiency, nuclear type 11
  • Mitochondrial complex I deficiency, nuclear type 10
  • Mitochondrial complex I deficiency, nuclear type 18
  • Mitochondrial complex I deficiency, nuclear type 15
  • Mitochondrial complex I deficiency, nuclear type 16
  • Mitochondrial complex I deficiency, nuclear type 17
  • Mitochondrial complex I deficiency, nuclear type 35
  • NDUFB11-related conditions:
    • Myopathy, lactic acidosis and sideroblastic anemia
    • Histiocytoid cardiomyopathy
    • Microphthalmia with linear skin defects syndrome
    • X-linked lethal infantile mitochondrial disorder
  • Mitochondrial complex I deficiency, nuclear type 25
  • Mitochondrial complex I deficiency, nuclear type 32
  • Mitochondrial complex I deficiency, nuclear type 24
  • Mitochondrial complex I deficiency, nuclear type 5
  • Mitochondrial complex I deficiency, nuclear type 6
  • Mitochondrial complex I deficiency, nuclear type 8
  • Mitochondrial complex I deficiency, nuclear type 1
  • Mitochondrial complex I deficiency, nuclear type 9
  • NDUFS7-related mitochondrial complex I deficiency
  • Mitochondrial complex I deficiency, nuclear type 2
  • Mitochondrial complex I deficiency, nuclear type 4
  • Mitochondrial complex I deficiency, nuclear type 7
  • Majewski syndrome; Amyotrophic lateral sclerosis
  • Immunodeficiency, developmental delay, and hypohomocysteinemia due to NFE2L2 gain-of-function
  • Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
  • NGLY1-congenital disorder of glycosylation (CDG-1V)
  • Spastic ataxia 8 with hypomyelinating leukodystrophy
  • Niemann-Pick disease type C (NPC)
  • Pitt-Hopkins-like syndrome
  • Combined mitochondrial respiratory chain complex deficiency 48
  • Hereditary spastic paraplegia 45 (HSP45)
  • NTRK2 gene-related neurodevelopmental syndromes:
    • Obesity, hyperphagia, and developmental delay
    • Early infantile epileptic encephalopathy
  • Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21)
  • Infantile striatonigral degeneration
  • Gyrate atrophy of choroid and retina (GACR)
  • Lowe syndrome
  • OPA1-related conditions:
    • Hereditary optic atrophy
    • Optic atrophy plus syndrome
    • Mitochondrial DNA depletion syndrome
    • Behr syndrome
  • 3-methylglutaconic aciduria type III (Costeff syndrome), Optic atrophy and cataract
  • Ornithine transcarbamylase (OTC) deficiency
  • Schuurs-Hoeijmakers syndrome
  • PAFAH1B1-related lissencephaly
  • Phenylketonuria (PKU)
  • Pantothenate kinase-associated neurodegeneration (PKAN)
  • Alpers syndrome
  • Otofaciocervical syndrome
  • Pyruvate carboxylase deficiency
  • Propionic acidemia (PA)
  • Diencephalic-mesencephalic junction dysplasia syndrome (DMJD)
  • Turnpenny-Fry syndrome
  • PDGFRB-related conditions:
    • Kosaki syndrome
    • Primary basal ganglia calcification type 4
    • Infantile myofibromatosis
    • Penttinen-Aula syndrome (PENTT)
  • Pyruvate dehydrogenase E1-alpha (PDHE1α) deficiency
  • Pyruvate dehydrogenase complex (PDHC) deficiency
  • Pyruvate dehydrogenase phosphatase deficiency (PDHPD)
  • Isolated mitochondrial complex IV deficiency
  • Molybdenum cofactor deficiency
  • Rhizomelic chondrodysplasia punctata
  • PGAP1-related intellectual disability
  • Phosphoglycerate kinase 1 deficiency
  • Phosphoglycerate dehydrogenase deficiency
  • Refsum disease
  • PIGA-congenital disorder of glycosylation (PIGA-CDG)
  • PIGB-congenital disorder of glycosylation (PIGB-CDG) (Early infantile epileptic encephalopathy 80 [EIEE80])
  • PIGG-congenital disorder of glycosylation (PIGG-CDG)
  • PIGL-congenital disorder of glycosylation (PIGL-CDG) (CHIME syndrome)
  • Glycosylphosphatidylinositol biosynthesis defect (PIGM-CDG)
  • PIGN-congenital disorder of glycosylation (PIGN-CDG) (Multiple congenital anomalies-hypotonia-seizures syndrome)
  • PIGP-congenital disorder of glycosylation (PIGP-CDG), (Developmental and epileptic encephalopathy, Early infantile epileptic encephalopathy)
  • PIGQ-congenital disorder of glycosylation (PIGQ-CDG) (Early infantile epileptic encephalopathy)
  • PIGT-congenital disorder of glycosylation (PIGT-CDG) (Glycosylphosphatidylinositol biosynthesis defect 7)
  • PIGU-congenital disorder of glycosylation (PIGU-CDG) (Glycosylphosphatidylinositol biosynthesis defect 21)
  • PIGV-congenital disorder of glycosylation (PIGV-CDG), Hyperphosphatasia with intellectual disability syndrome, Mabry syndrome
  • Oculoskeletodental syndrome
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
  • PLA2G6-related conditions:
    • Infantile neuroaxonal dystrophy (INAD)
    • Neurodegeneration with brain iron accumulation (NBIA 2B)
    • Parkinson disease (PARK14)
  • PLAA-related neurodevelopmental disorder
  • Leukodystrophy and acquired microcephaly with or without dystonia
  • Spastic paraplegia 2 (SPG2), Pelizaeus-Merzbacher disease (PMD)
  • PMM2-congenital disorder of glycosylation (CDG-Ia)
  • Charcot-Marie-Tooth disease type 1A and 1E
  • PNPK-related developmental and epileptic encephalopathy; ataxia with oculomotor apraxia;
  • Combined oxidative phosphorylation deficiency 13 (COXPD13)
  • POLG-related disorders:
    • Alpers-Huttenlocher (AHS)
    • Childhood myocerebrohepatopathy spectrum (MCHS)
    • Myoclonic epilepsy myopathy sensory ataxia (MEMSA)
    • Progressive external ophthalmoplegia
    • Ataxia neuropathy spectrum (ANS)
  • Progressive external ophthalmoplegia with mitochondrial deletions 4
  • POLR1A-related neurodegenerative disease
  • Hypomyelinating leukodystrophy 11
  • Hypomyelinating leukodystrophy 7 (HLD7); Wiedemann-Rautenstrauch syndrome
  • Hypomyelinating leukodystrophy 8 (HLD8) with or without oligodontia and/or hypogonadotropic hypogonadism
  • Muscular dystrophy-dystroglycanopathy type A3, B3,C3
  • Muscular dystrophy-dystroglycanopathy type A12, C12
  • Muscular dystrophy-dystroglycanopathy type A1, B1, C1
  • Muscular dystrophy-dystroglycanopathy type A2, B2, C2
  • PPP1R15B-related microcephaly, short stature, and impaired glucose metabolism 2 (MSSGM2)
  • PPP2R1A-related syndromic intellectual disability
  • PPP3CA-related arthrogryposis, cleft palate, craniosynostosis and intellectual disability; PPP3CA-related developmental and epileptic encephalopathy
  • Neuronal ceroid lipofuscinosis 1 (CLN1)
  • Familial hemophagocytic lymphohistiocytosis type 2 (FHL2)
  • Severe combined immunodeficiency (SCID) due to DNA PKcs deficiency
  • Hyperprolinemia Type 1 (HPI)
  • Pyridoxine-dependent epilepsy
  • PRPS1-related conditions
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA)
  • PSAP-related saposin deficiencies
  • Phosphoserine aminotransferase (PSAT) deficiency, Neu-Laxova syndrome
  • Phosphoserine phosphatase deficiency (PSPHD)
  • PTEN-related conditions
  • PTPN23-related neurodevelopmental delay and structural brain abnormalities
  • PURA-related conditions
  • PUS3-related intellectual disability syndrome
  • Hypomyelinating leukodystrophy 10 (HLD10)
  • Progressive microcephaly with seizures and cerebral and cerebellar atrophy
  • Combined oxidative phosphorylation deficiency 40 (COXPD40)
  • RAB11B-related neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
  • Warburg micro syndrome (WARBM)
  • Hypomyelinating leukodystrophy 9 (HLD9)
  • RARS2-related pontocerebellar hypoplasia
  • Adams-Oliver syndrome 3
  • REPS1-related neurodegeneration with brain iron accumulation
  • RERE-related neurodevelopmental disorder with or without anomalies of the brain, eye or heart
  • RHOBTB2-related developmental and epileptic encephalopathy
  • RIN2-related macrocephaly, alopecia, cutis laxa, and scoliosis
  • Combined oxidative phosphorylation deficiency 11 (COXPD11)
  • Pontocerebellar hypoplasia
  • Cystic leukoencephalopathy
  • Ribose 5-phosphate isomerase deficiency
  • RPS6KC1-related developmental delay, brain abnormalities, delayed myelination and axial hypotonia
  • Mitochondrial DNA depletion syndrome 8A
  • RTTN-related microcephaly, short stature, and polymicrogyria with or without seizures
  • Muscular dystrophy-dystroglycanopathy type A10 (MDDGA10)
  • Ataxia-pancytopenia syndrome
  • SCN3A-related developmental and epileptic encephalopathy; Childhood onset epilepsy
  • Mitochondrial complex IV deficiency (Cytochrome-c oxidase deficiency)
  • Cardioencephalomyopathy due to mitochondrial complex IV deficiency
  • Mitochondrial complex II deficiency with or without cardiomyopathy
  • Infantile leukoencephalopathy
  • SDHD-related mitochondrial complex II deficiency
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome
  • Schinzel-Giedion syndrome; SETBP1-related intellectual disability
  • Mucopolysaccharidosis type IIIA (MPS IIIA) (Sanfilippo syndrome A)
  • Charcot-Marie-Tooth disease type 4C (CMT4C)
  • Noonan-like syndrome with loose anagen hair
  • Sedoheptulokinase deficiency
  • Kilquist syndrome; Delpire-McNeill syndrome; SLC12A2-related nonsyndromic deafness
  • SLC12A5-related developmental and epileptic encephalopathy
  • Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome), SLC12A6-associated Charcot-Marie-Tooth disease
  • Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK)
  • Developmental and epileptic encephalopathy, Early infantile epileptic encephalopathy (EIEE)
  • Allan-Herndon-Dudley syndrome
  • Infantile free sialic acid storage disorder (ISSD)
  • Biotin-responsive basal ganglia disease (BBGD), Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)
  • SLC1A2-related early infantile epileptic encephalopathy
  • Episodic ataxia type 6 (EA6); Developmental delay and/or autism
  • Spastic tetraplegia, thin corpus callosum and progressive microcephaly (SPATCCM)
  • Combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA)
  • SLC25A12-related early infantile epileptic encephalopathy
  • Hyperornithinemia-hyperammonemia-homocystinuria (HHH) syndrome
  • Thiamine metabolism dysfunction syndromes
  • Primary coenzyme Q10 deficiency
  • Mitochondrial DNA depletion syndrome 12A, 12B
  • Mitochondrial myopathy
  • Hereditary motor and sensory neuropathy type VIB and pontocerebellar hypoplasia
  • Glucose transporter type 1 (GLUT1) deficiency
  • Hypermanganesemia with dystonia
  • Huppke-Brendel syndrome (HBS) (Congenital cataracts, hearing loss, and neurodegeneration)
  • Congenital disorder of glycosylation (SLC35A2-CDG, CDG-IIm)
  • Hypomanganesemia with dystonia type 2 (HMNDYT2); Hyperostosis carnialis interna
  • SLC39A8-congenital disorder of glycosylation (SLC39A8-CDG, CDG-IIn)
  • Hereditary folate malabsorption
  • Hartnup disease
  • Creatine transporter deficiency (CTD)
  • Glycine encephalopathy with normal serum glycine
  • Lichtenstein-Knorr syndrome
  • Christianson syndrome
  • Cornelia de Lange syndrome (CdLS); SMC1A-related early infantile epileptic encephalopathy with or without holoprosencephaly
  • Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome
  • SNIP1-related psychomotor impairment, epilepsy, and craniofacial dysmorphism
  • Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome)
  • Cerebrocostomandibular syndrome
  • Spinocerebellar ataxia 20
  • Amyotrophic lateral sclerosis 1
  • Zhu-Tokita-Takenouchi-Kim syndrome
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
  • SOX2-related conditions
  • Hereditary spastic paraplegia 20 (Troyer syndrome)
  • Hereditary spastic paraplegia 4 (SPG4)
  • SPATA5-related epilepsy, hearing loss, and intellectual disability syndrome
  • Juvenile amyotrophic lateral sclerosis 5, Hereditary spastic paraplegia 11 (SPG11), Charcot-Marie-Tooth disease type 2X
  • Hereditary spastic paraplegia 7
  • SPTAN1-related early infantile epileptic encephalopathy
  • Neurodegeneration with ataxia, dystonia and gaze palsy (NADGP); Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • SRD5A3-congenital disorder of glycosylation (CDG-Iq) (Kahrizi syndrome)
  • SSR4-Congenital Disorder of Glycosylation (CDG type 1y)
  • ST3GAL5-congenital disorder of glycosylation (ST3GAL5); GM3 synthase deficiency
  • STAG2-related neurodevelopmental disorder with craniofacial abnormalities
  • Microcephaly-capillary malformation syndrome
  • STAT1-related conditions
  • STAT2 deficiency
  • Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome
  • Familial hemophagocytic lymphohistiocytosis type 4 (FHL4)
  • STXBP1-related early infantile epileptic encephalopathy
  • Familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
  • Succinate-CoA ligase deficiency
  • Mitochondrial DNA depletion syndrome
  • Multiple sulfatase deficiency
  • Sulfite oxidase deficiency
  • Leigh syndrome due to mitochondrial complex IV deficiency, Charcot-Marie-Tooth disease type 4K
  • Spinocerebellar ataxia type 8
  • SYNJ1-related developmental and epileptic encephalopathy; Early-onset Parkinson disease
  • Zellweger spectrum disorder (ZSD)
  • TAF2-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia
  • Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN)
  • Combined oxidative phosphorylation deficiency 21 (COXPD21)
  • TBC1D24-related epilepsy disorders
  • TBCD-related progressive early-onset encephalopathy with brain atrophy and thin corpus callosum
  • Hypoparathyroidism-retardation-dysmorphism syndrome:
    • Sanjad-Sakati syndrome (SSS)
    • Kenney-Caffey syndrome (KCS)
      Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO)
  • Infantile hypotonia with intellectual disability and characteristic facies
  • 22q11.2 deletion syndrome (DiGeorge, Velocardiofacial syndrome)
  • Pitt-Hopkins syndrome
  • 3-methylglutaconic aciduria
  • Mitochondrial complex I deficiency, nuclear type 31
  • TM4SF20-related delay in early speech acquisition associated with leukoencephalopathy and autism spectrum disorder
  • Hypomyelinating leukodystrophy 16
  • Mitochondrial complex I deficiency, nuclear type 29
  • Congenital disorder of glycosylation (CDG-IIk)
  • ATP synthase deficiency
  • TMTC3-related lissencephaly
  • TOE1-related pontocerebellar hypoplasia
  • Triosephosphate isomerase deficiency
  • Thiamine metabolism dysfunction syndrome 5 (THMD5)
  • Neuronal ceroid lipofuscinosis 2 (CLN2)
  • TRAPC11-congenital disorder of glycosylation (TRAPC11-CDG); Limb-girdle muscular dystrophy type 2S
  • TRAPPC9-related intellectual disability, Congenital disorders of glycosylation (TRAPPC9-CDG)
  • Aicardi-Goutieres syndrome 1 (AGS1), Retinal vasculopathy with cerebral leukodystrophy
  • Microcephaly, short stature, impaired glucose metabolism (MSSGM)
  • Combined oxidative phosphorylation deficiency 26 (COXPD26)
  • Tuberous sclerosis complex
  • Mitochondrial complex III deficiency, nuclear type 2
  • TUBA1A-related cortical malformations
  • Epileptic encephalopathy; Polymicrogyria
  • TUBB2A-related cortical malformation syndrome
  • TUBB2B-related cortical malformation syndrome
  • TUBB3-related conditions:
    • Cortical malformation syndrome
    • Congenital fibrosis of the extraocular muscles
  • TUBB4A-related conditions:
    • Hypomyelinating leukodystrophy 6 (HLD6)
    • Dystonia 4 (DYT4) (whispering dystonia)
  • TUBG1-related cortical malformations
  • Combined oxidative phosphorylation deficiency 4 (COXPD4)
  • TWNK-related conditions:
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3
    • Perrault syndrome 5
    • Mitochondrial DNA depletion syndrome 7 (Infantile-onset spinocerebellar ataxia)
  • Combined oxidative phosphorylation deficiency 29 (COXPD29)
  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (Mitochondrial DNA depletion syndrome 1)
  • UBA5-related developmental and epileptic encephalopathy; Spinocerebellar ataxia 24
  • Nascimento type of X-linked syndromic intellectual disability
  • Angelman syndrome (AS)
  • Hypomyelinating leukodystrophy 14 (HLD14)
  • Familial hemophagocytic lymphohistiocytosis type 3 (FHL3)
  • Beta-ureidopropionase deficiency
  • USP7-related neurodevelopmental condition involving neurological and behavioral anomalies
  • Combined oxidative phosphorylation deficiency 20 (COXPD20)
  • Hypomyelinating leukodystrophy 12 (HLD12)
  • Cerebellar ataxia-saccadic intrusion syndrome
  • Mucopolysaccharidosis-plus syndrome (MPSPS)
  • WARS2-related leukoencephalopathy
  • Beta-propeller protein-associated neurodegeneration (BPAN)
  • WDR73-related Galloway-Mowat syndrome
  • Wolf-Hirschhorn-like syndrome
  • Spinocerebellar ataxia 12
  • Charcot-Marie-Tooth disease type C; YARS-related multi-systemic syndrome
  • Mitochondriopathy with optic nerve atrophy
  • Mowat-Wilson syndrome
  • Hereditary spastic paraplegia 15 (SPG15)
  • Structural brain anomalies with impaired intellectual development and craniosynostosis
  • ZNF335-related primary microcephaly

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.Learn more about specimen requirementsRequest a specimen collection kit

Clinical description

To view the complete clinical description of this panel, click here.

Clinical description

To view the complete clinical description of this panel, click here.

Assay information

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, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. 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.

Assay information

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, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. 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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Primary panel

697 genes selected
AARS
AARS2
ABAT
ABCA1
ABCD1
ABCD4
ABHD5
ACADS
ACBD5
ACER3
ACO2
ACOX1
ACP5
ACSF3
Show all genes
Select add-on genes
32 genes

The Adult-Onset Leukodystrophy and Leukoencephalopathy Panel has been developed to offer a broad, symptom-based approach to diagnosing adult-onset 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. These genes were selected based on the available evidence to date. Adult-onset leukodystrophies and leukoencephalopathies are genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication. *Of note, this panel does not test mitochondrial DNA and does not detect conditions caused by repeat expansions.*

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