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Catalog ID PTC CP Non-Injury Cerebral Palsy Genetic Testing (free sponsored testing)

Additional Codes

CPOE: Ref Specimen Referral Misc, specify "Invitae PTC CP sponsored panel"

Specimen

3 mL in Lavender EDTA tube or Invitae buccal swab kit

Rejection Criteria

incorrect specimen, patient does not meet eligibility criteria

Interpretative Information

Program Eligibility - signs and symptoms that are suggestive of an underlying genetic etiology for CP include: 

  • No documented perinatal risk for brain injury

  • Full term birth

  • Brain MRI that is normal or inconsistent with acquired brain injury

  • Onset of abnormal motor symptoms after a period of normal development 

  • Progressive neurologic symptoms

  • Fluctuation of muscle tone or motor symptoms 

  • Worsening of neurologic symptoms with fever and/or illness 

  • Hypotonia as an isolated symptom 

  • Ataxia as a prominent feature 

  • Evidence of peripheral neuromuscular disease 

  • Abnormal eye movements 

  • Family history of similarly affected individuals

Disorders tested

  • GABA-transaminase deficiency
  • X-linked adrenoleukodystrophy (X-ALD)
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
  • Beta-ketothiolase deficiency
  • Cone-rod dystrophy and white matter disease
  • Acyl-CoA oxidase deficiency
  • ACTB-related conditions:
    • Baraitser-Winter syndrome
    • Juvenile onset dystonia
  • Aicardi Goutieres syndrome
  • ADCY5-related dyskinesia
  • Spastic quadriplegic cerebral palsy
  • Helsmoortel-Van der Aa Syndrome (HVDAS)
  • Adenylosuccinate lyase deficiency (ADSL)
  • Spinocerebellar ataxia 28 (SCA28), Spastic ataxia 5
  • Aicardi-Goutieres syndrome
  • Xia-Gibbs syndrome (XGS)
  • Megalencephaly,-polymicrogyria-hydrocephalus 2 (MPHH2)
  • 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)
  • Atypical cerebral palsy
  • ALG13-congenital disorder of glycosylation (CDG-Is)
  • ALG3-congenital disorder of glycosylation (CDG-Id)
  • ALS2-related conditions:
    • Infantile onset-ascending hereditary spastic paraplegia (IAHSP)
    • Juvenile primary lateral sclerosis (JPLS)
    • Juvenile amyotrophic lateral sclerosis 2 (ALS2)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Pontocerebellar hypoplasia, type 9 (PCH9); Hereditary spastic paraplegia 63 (SPG63)
  • Glycine encephalopathy
  • Dystonia 24 (DYT24)
  • 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)
  • Oculomotor apraxia type I (AOA1)
  • Arginase deficiency
  • Hereditary hyperekplexia, Early infantile epileptic encephalopathy 8 (EIEE8)
  • Hereditary spastic paraplegia 61 (HSP61/SPG61)
  • 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)
  • Hyperekplexia type 4 (HKPX4)
  • ATL1-related conditions:
    • Hereditary sensory neuropathy 1D (HSN1D)
    • Hereditary spastic paraplegia type 3A (HSP3A/SPG3A)
  • Ataxia-telangiectasia (AT)
  • Kufor-Rakeb syndrome (KRS); Spastic paraplegia (SPG78)
  • Dystonia 12 (DYT12); Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome; Alternating hemiplegia of childhood type 2 (AHC2)
  • 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)
  • Alpha-thalassemia X-linked intellectual disability syndrome
  • 3-Methylglutaconic aciduria type 1
  • AUTS2 syndrome
  • Hereditary spastic paraplegia (SPG26) – B4GALNT1-congenital disorder of glycosylation (B4GALNT1-CDG)
  • X-linked deafness, dystonia, and cerebral hypomyelination syndrome
  • Maple syrup urine disease (MSUD)
  • BICD2-related condition:
    • Spinal muscular atrophy, lower extremity predominant 2A (SMALED2A)
    • Spinal muscular atrophy, lower extremity predominant 2B (SMALED2B)
  • BSCL2-related conditions:
    • Charcot-Marie-Tooth disease type 2 (CMT2)
    • Distal hereditary motor neuropathy type 5 (HMN5)
    • Spastic paraplegia 17 (SPG17) (Silver syndrome)
    • Congenital generalized lipodystrophy, type 2 (CGL2)
  • Biotinidase deficiency
  • 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)
  • CACNA1G-related conditions:
    • Spinocerebellar ataxia 42 (SCA42)
    • Juvenile myoclonic epilepsy
  • Cerebellar ataxia with intellectual disability (CANPMR)
  • Hereditary spastic paraplegia 76 (HSP76/SPG76)
  • CASK-related conditions:
    • Intellectual disability
    • FG syndrome 4 (FGS4)
    • Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
  • Homocystinuria due to cystathionine beta-synthase (CBS) deficiency
  • CCDC88C-related conditions
  • Hereditary sensory neuropathy with spastic paraplegia
  • 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
  • CHD8-related condition
  • Congenital myasthenic syndrome (CMS)
  • Dystonia 23 (DYT23)
  • Neuronal ceroid lipofuscinosis type 3 (CLN3)
  • Neuronal ceroid lipofuscinosis type 5 (CLN5)
  • Neuronal ceroid lipofuscinosis type 6 (CLN6)
  • Neuronal ceroid lipofuscinosis type 8 (CLN8)
  • CLTC-related intellectual disability; Atypical Rett syndrome
  • COASY protein-associated neurodegeneration (CoPan)
  • COL4A1-related disorders
  • Brain small vessel disease 2 with or without ocular anomalies (BSVD2)
  • COL6A3-related conditions:
    • Dystonia 27 (DYT27)
    • Bethlem myopathy
    • Ullrich congenital muscular dystrophy
  • Carbamoyl phosphate synthetase 1 (CPS1) deficiency
  • Spastic paraplegia 73 (HSP73/SPG73)
  • Rubinstein-Taybi syndrome
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS)
  • CTNNB1-related intellectual disability
  • Neuronal ceroid lipofuscinosis type 10 (CLN10)
  • 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)
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL)
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • Dopamine beta-hydroxylase deficiency
  • Woodhouse-Sakati syndrome (WSS)
  • Aromatic L-amino acid decarboxylase deficiency (AADC)
  • DDHD1-related conditions
    • Hereditary spastic paraplegia (SPG28)
    • Juvenile amyotrophic lateral sclerosis (JALS)
  • Hereditary spastic paraplegia 54 (HSP54/SPG54)
  • DDX3X-related intellectual disability syndrome
  • DHDDS-related conditions:
    • Retinitis pigmentosa (RP),
    • Developmental and epileptic encephalopathy syndrome,
    • Congenital disorder of glycosylation (CDG-Ibb)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
  • Pyruvate dehydrogenase E2 (PDHE2) deficiency
  • Dihydrolipoamide dehydrogenase deficiency (DLD)
  • Duchenne muscular dystrophy, Becker muscular dystrophy
  • Hyperphenylalaninemia (HPA)
  • Lethal congenital contracture syndrome 5
  • Congenital myasthenic syndrome 13 (CMS13); DPAGT1-congenital disorder of glycosylation (CDG-Ij)
  • DYNC1H1-related conditions:
    • Charcot-Marie-Tooth disease type 20
    • Spinal muscular atrophy, lower extremity 1 (SMALED1)
    • Intellectual disability
  • Intellectual disability disorder 7
  • EEF2-related conditions:
    • Spinocerebellar ataxia 26 (SCA26)
    • Neurodevelopmental disorder
  • Leukoencephalopathy with vanishing white matter
  • Spinocerebellar ataxia 34 (erythrokeratodermia with ataxia); Ichthyosis, spastic quadriplegia, and intellectual disability
  • Spinocerebellar ataxia 34 (SCA34) (erythrokeratodermia with ataxia); Ichthyosis, spastic quadriplegia, and intellectual disability
  • Spinocerebellar ataxia 38 (SCA38)
  • Hereditary spastic paraplegia 64 (HSP64/SPG64)
  • Cockayne syndrome B
  • Cockayne syndrome A
  • Hereditary spastic paraplegia 62 (HSP62/SPG62); Amyotrophic lateral sclerosis (ALS)
  • Hereditary spastic paraplegia 18 (HSP18/SPG18)
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia type II)
  • Ethylmalonic encephalopathy
  • Pontocerebellar hypoplasia (PCH) type 1B
  • Fatty acid hydroxylase-associated neurodegeneration (FAHN) (Hereditary spastic paraplegia 35)
  • Hypomyelination and congenital cataracts (HCC)
  • Hereditary spastic paraplegia 77, Combined oxidative phosphorylation deficiency 14
  • Spinocerebellar ataxia 45 (SCA45)
  • Developmental delay and epileptic encephalopathy 47 (DEE47)
  • Spinocerebellar ataxia 27 (SCA27)
  • Fumarate hydratase deficiency
  • Cerebral folate deficiency
  • Congenital/atypical Rett syndrome
  • Neurodegeneration with neuroferritinopathy, Hereditary hyperferritinemia-cataract syndrome (HHCS), L-ferritin deficiency
  • Fucosidosis
  • Early infantile epileptic encephalopathy (EIEE)
  • Developmental and epileptic encephalopathy (DEE), Spastic quadriplegic cerebral palsy (CPSQ1)
  • Krabbe disease
  • Guanidinoacetate methyltransferase deficiency (GAMT)
  • Cerebral creatine deficiency due to arginine:glycine amidinotransferase deficiency (AGAT)
  • Gaucher disease
  • Spastic paraplegia 46 (HSP46/SPG46)
  • Glutaric acidemia type I
  • Dopa-responsive dystonia (DRD), GTP cyclohydrolase deficiency
  • Alexander disease
  • Hereditary spastic paraplegia 44 (HSP44/SPG44); Hypomyelinating leukodystrophy 2 (HLD, Pelizaeus-Merzbacher-like disease)
  • GM1 gangliosidosis, Mucopolysaccharidosis IVB (MPSIVB) (Morquio B)
  • Hyperekplexia type 1 (HKPX1)
  • Hyperekplexia type 2 (HKPX2)
  • GM2-gangliosidosis, AB variant
  • Dystonia 25 (DYT25)
  • Early infantile epileptic encephalopathy; Neurodevelopmental disorder with involuntary movements (NEDIM)
  • Intellectual disability 42
  • Mucopolysaccharidosis type IIID (MPS IIID) (Sanfilippo syndrome D)
  • Childhood onset chorea with psychomotor impairment
  • Spinocerebellar ataxia 18 (SCAR18)
  • Early infantile epileptic encephalopathy (EIEE); Intellectual disability (ID)
  • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy), Intellectual disability (ID)
  • Spinocerebellar ataxia 44 (SCA44); Spinocerebellar ataxia 13 (SCAR13)
  • Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS)
  • HESX1-related conditions
  • Tay-Sachs disease
  • Sandhoff disease
  • HGSNAT-related conditions:
    • Mucopolysaccharidosis IIIC (MPS IIIC) (Sanfilippo syndrome C)
    • Retinitis pigmentosa (RP)
  • Holocarboxylase synthetase deficiency
  • 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency
  • Dystonia 2 (DYT2)
  • HPRT1 deficiency, Lesch-Nyhan syndrome
  • 2-Methyl-3-hydroxybutyric aciduria
  • D-bifunctional protein deficiency (DBP), Perrault syndrome
  • Hereditary spastic paraplegia 13, Hypomyelinating leukodystrophy 4 (MitCHAP60 disease)
  • Multiple mitochondrial dysfunctions syndrome 3 (MMDS3)
  • Joubert syndrome
  • IQSEC2-related X-linked intellectual disability
  • Early onset neurodegeneration with choreoathetoid movements and microcytic anemia
  • Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency
  • Spinocerebellar ataxia type 15 (SCA15); Spinocerebellar ataxia type 29 (SCA29); Gillespie syndrome
  • Spastic quadriplegic cerebral palsy and intellectual disability
  • KAT6A syndrome
  • KCNA2-related conditions:
    • Hereditary spastic paraplegia and ataxia
    • Developmental and epileptic encephalopathy
  • Spinocerebellar ataxia type 13 (SCA13)
  • Keppen-Lubinsky syndrome
  • Paroxysmal nonkinesigenic dyskinesia, with or without epilepsy (PNKD)
  • KCNQ2-related conditions:
    • Benign familial neonatal seizures (BFNS)
    • Developmental and epileptic encephalopathy
  • KCNT1-related early infantile epileptic encephalopathy, Nocturnal frontal lobe epilepsy (ADNFLE)
  • Myoclonic dystonia 26
  • Neuronal ceroid lipofuscinosis type 14 (CLN14) (Progressive myoclonic epilepsy with or without intracellular inclusions)
  • X-linked intellectual disability, Claus-Jensen type
  • 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
  • KIF5A-related conditions:
    • Amyotrophic lateral sclerosis 25
    • Hereditary spastic paraplegia 10
    • Charcot-Marie-Tooth disease type 2
    • Intractable neonatal myoclonus
  • Wiedemann-Steiner syndrome (WDSTS)
  • Dystonia 28 (DYT28)
  • Kleefstra syndrome
  • Hereditary spastic paraplegia 1 (HSP1/SPG1)
  • L-2-hydroxyglutaric aciduria
  • LAMA2-related muscular dystrophy (LAMA2 MD)
  • Hyperglycinemia, lactic acidosis and seizures (HGCLAS), Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
  • Methylmalonic aciduria with homocystinuria due to cobalamin F deficiency (MMAcblF)
  • Hereditary spastic paraplegia 75 (HSP75/SPG75)
  • Monoamine oxidase A deficiency (Brunner syndrome)
  • Cardiofaciocutaneous (CFC) syndrome
  • Combined oxidative phosphorylation deficiency 25, Spastic ataxia 3
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM)
  • 3 Methylcrotonyl-CoA carboxylase deficiency (3MCC)
  • Methylmalonyl-CoA epimerase deficiency
  • Rett syndrome
  • Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
  • Neuronal ceroid lipofuscinosis type 7 (CLN7), Retinal dystrophy
  • Myopathy with extrapyramidal sign
  • Malonyl-CoA decarboxylase deficiency
  • Methylmalonic aciduria cobalamin A type (MMACblA)
  • Methylmalonic aciduria cobalamin B type (MMACblB)
  • Methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency
  • Methylmalonic aciduria with homocystinuria due to cobalamin D (cblD) deficiency
  • Mitochondrial pyruvate carrier deficiency (MPYCD)
  • Severe MTHFR deficiency
  • Smith-Kingsmore syndrome (SKS)
  • Spastic ataxia 4
  • Cobalamin G (cblG) deficiency
  • Cobalamin E (cblE) deficiency
  • Abetalipoproteinemia
  • Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
  • Ogden syndrome
  • Cerebral palsy
  • Mucopolysaccharidosis type IIIB (MPS IIIB) (Sanfilippo syndrome B)
  • N-acetylglutamate synthase (NAGS) deficiency
  • Infantile liver failure syndrome, Short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome
  • NGLY1-congenital disorder of glycosylation (CDG-1V)
  • Hereditary spastic paraplegia 6 (HSP6/SPG6)
  • Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP)
  • Niemann-Pick disease type C (NPC)
  • Nephronophthisis
  • Hereditary spastic paraplegia 45 (HSP45/S{G45)
  • Early infantile epileptic encephalopathy (EIEE); NUS1-congenital disorder of glycosylation (NUS1-CDG, CDG-Iaa)
  • Ornithine transcarbamylase (OTC) deficiency
  • PAFAH1B1-related lissencephaly
  • Phenylketonuria (PKU)
  • Intellectual disability 30 (XLID30)
  • Molybdenum cofactor deficiency
  • Pantothenate kinase-associated neurodegeneration (PKAN)
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia
  • Propionic acidemia (PA)
  • Diencephalic-mesencephalic junction dysplasia syndrome (DMJD)
  • Phosphodiesterase 10A
  • Early onset chorea
  • Pyruvate dehydrogenase E1-alpha (PDHE1α) deficiency
  • Pyruvate dehydrogenase complex (PDHC) deficiency
  • Pyruvate dehydrogenase phosphatase deficiency (PDHPD)
  • Primary coenzyme Q10 deficiency 2 (COQ10D2)
  • Primary coenzyme Q10 deficiency 3 (COQ10D3)
  • Spinocerebellar ataxia 23 (SCA23)
  • Phosphoglycerate dehydrogenase deficiency
  • PHIP-related conditions
  • PIGN-congenital disorder of glycosylation (PIGN-CDG) (Multiple congenital anomalies-hypotonia-seizures syndrome)
  • PIGT-congenital disorder of glycosylation (PIGT-CDG) (Glycosylphosphatidylinositol biosynthesis defect 7)
  • PLA2G6-related conditions:
    • Infantile neuroaxonal dystrophy (INAD)
    • Neurodegeneration with brain iron accumulation (NBIA 2B)
    • Parkinson disease (PARK14)
  • Spinocerebellar ataxia 46 (SCA46)
  • Spastic paraplegia 2 (SPG2), Pelizaeus-Merzbacher disease (PMD)
  • Primary coenzyme Q10 deficiency
  • PMM2-congenital disorder of glycosylation (CDG-Ia)
  • Familial paroxysmal nonkinesigenic dyskinesia, PNKD-related Tourette syndrome
  • Purine nucleoside phosphorylase deficiency
  • PNPLA-6 related conditions:
    • Hereditary spastic paraplegia 39 (HSP39/SPG39)
    • Lawrence-Moon syndrome (LNMS)
    • Oliver-McFarlane syndrome (OMCS)
    • Boucher-Neuhauser syndrome (BNHS)
  • Pyridoxal 5′-phosphate-dependent epilepsy
  • POLG-related disorders:
    • Alpers-Huttenlocher (AHS)
    • Childhood myocerebrohepatopathy spectrum (MCHS)
    • Myoclonic epilepsy myopathy sensory ataxia (MEMSA)
    • Progressive external ophthalmoplegia
    • Ataxia neuropathy spectrum (ANS)
  • Hypomyelinating leukodystrophy 7 (HLD7); Wiedemann-Rautenstrauch syndrome
  • Neuronal ceroid lipofuscinosis 1 (CLN1)
  • Dystonia 16 (DYT16)
  • PRRT2-related conditions:
    • Episodic kinesigenic dyskinesia 1 (EKD1)
    • Benign familial infantile seizures 2 (BFIS2)
    • Familial infantile convulsions with paroxysmal choreoathetosis (ICCA)
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA)
  • Phosphoserine aminotransferase (PSAT) deficiency, Neu-Laxova syndrome
  • Phosphoserine phosphatase deficiency (PSPHD)
  • Noonan Spectrum Disorders (NSDs) (RASopathies); Metachondromatosis (MC)
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvate tetrahydropterin synthase deficiency
  • PURA-related conditions
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency (DHPR)
  • Warburg micro syndrome (WARBM)
  • Infection-induced acute necrotizing encephalopathy
  • Hereditary spastic paraplegia 31, Distal hereditary motor neuropathy 5B
  • Hereditary spastic paraplegia 72 (HSP72/SPG72)
  • RHOBTB2-related developmental and epileptic encephalopathy
  • Pyridoxine-dependent epilepsy
  • Cystic leukoencephalopathy
  • Hereditary spastic paraplegia 12 (HSP12/SPG12)
  • Spastic ataxia of Charlevoix-Saguenay
  • Glass syndrome
  • Spectrum of autosomal dominant SCN1A seizure disorders (Dravet syndrome), Familial hemiplegic migraine (FHM3)
  • SCN2A-related conditions:
    • Benign familial neonatal-infantile seizures (BFNIS)
    • Early infantile epileptic encephalopathy (EIEE)
    • Episodic ataxia
  • SCN3A-related developmental and epileptic encephalopathy; Childhood onset epilepsy
  • Early infantile epileptic encephalopathy (EIEE), Benign familial neonatal seizures (BFNS)
  • SETD5-related neurodevelopmental syndrome
  • Dystonia 11
  • Mucopolysaccharidosis type IIIA (MPS IIIA) (Sanfilippo syndrome A)
  • SHH-related holoprosencephaly
  • Marinesco-Sjogren syndrome
  • SIX3-related holoprosencephaly
  • Allan-Herndon-Dudley syndrome
  • Infantile free sialic acid storage disorder (ISSD)
  • Brain dopamine-serotonin vesicular transport disease
  • Biotin-responsive basal ganglia disease (BBGD), Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)
  • Spastic tetraplegia, thin corpus callosum and progressive microcephaly (SPATCCM)
  • Hyperornithinemia-hyperammonemia-homocystinuria (HHH) syndrome
  • Zellweger spectrum disorder (ZSD)
  • Glucose transporter type 1 (GLUT1) deficiency
  • Hypermanganesemia with dystonia
  • Huppke-Brendel syndrome (HBS) (Congenital cataracts, hearing loss, and neurodegeneration)
  • Hypomanganesemia with dystonia type 2 (HMNDYT2); Hyperostosis carnialis interna
  • Hartnup disease
  • Infantile parkinsonism-dystonia (PKDYS1) (Dopamine transporter deficiency syndrome)
  • Hyperekplexia 3 (HKPX3)
  • Creatine transporter deficiency (CTD)
  • Zhu-Tokita-Takenouchi-Kim syndrome
  • 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 21 (HSP21/SPG21) (Mast syndrome)
  • Hereditary spastic paraplegia 7
  • Sepiapterin reductase deficiency
  • SPTAN1-related early infantile epileptic encephalopathy
  • Spinocerebellar ataxia 5 (SCA5); Spinocerebellar ataxia 14 (SCAR14)
  • Neurodegeneration with ataxia, dystonia and gaze palsy (NADGP); Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • ST3GAL5-congenital disorder of glycosylation (ST3GAL5); GM3 synthase deficiency
  • Microcephaly-capillary malformation syndrome
  • Spinocerebellar ataxia 16 (SCAR16); Spinocerebellar ataxia 48 (SCA48)
  • STXBP1-related early infantile epileptic encephalopathy
  • Succinate-CoA ligase deficiency
  • Mitochondrial DNA depletion syndrome
  • Sulfite oxidase deficiency
  • Leigh syndrome due to mitochondrial complex IV deficiency, Charcot-Marie-Tooth disease type 4K
  • SYNGAP1-related conditions
  • TAF1-related conditions
  • Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN)
  • TBC1D24-related epilepsy disorders
  • Infantile hypotonia with intellectual disability and characteristic facies
  • Pierpont syndrome
  • Pitt-Hopkins syndrome
  • Hereditary spastic paraplegia (HSP49/SPG49)
  • TFG-related conditions:
    • Hereditary motor and sensory neuropathy, Okinawa type (HMSNO)
    • Hereditary spastic paraplegia 57 (HSP57/SPG 57)
  • TGIF1-related holoprosencephaly
  • Spinocerebellar ataxia 35 (SCA35)
  • Tyrosine hydroxylase deficiency (Segawa syndrome)
  • Dystonia 6 (DYT6)
  • Spinocerebellar ataxia 21 (SCA 21)
  • Dystonia 1 (DYT1)
  • Neuronal ceroid lipofuscinosis 2 (CLN2)
  • Aicardi-Goutieres syndrome 1 (AGS1), Retinal vasculopathy with cerebral leukodystrophy
  • Spinocerebellar ataxia 41 (SCA41)
  • Pontocerebellar hypoplasia
  • Spinocerebellar ataxia 11 (SCA 11)
  • Ataxia with vitamin E deficiency (AVED)
  • TUBA1A-related cortical malformations
  • 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)
  • Angelman syndrome (AS)
  • Spastic paraplegia 79 (HSP79/SPG79)
  • VAC14-related conditions:
    • Yunis Varon syndrome (YVS)
    • Childhood-onset striatonigral degeneration (SNDC)
  • Spastic ataxia; Congenital myasthenic syndrome 25 (CMA25)
  • Choreoacanthocytosis
  • Spinocerebellar ataxia 4 (SCAR4) (Cerebellar ataxia-saccadic intrusion syndrome)
  • Hereditary spastic paraplegia 53 (HSP53/SPG53)
  • WARS2-related leukoencephalopathy
  • Hereditary spastic paraplegia 8 (HSP8/SPG8); Cranio-cerebello-cardiac (3C) syndrome (Ritscher-Schinzel syndrome)
  • Beta-propeller protein-associated neurodegeneration (BPAN)
  • Primary microcephaly
  • ZBTB18-related intellectual disability
  • Wieacker-Wolff syndrome (WRWF)
  • Mowat-Wilson syndrome
  • Hereditary spastic paraplegia
  • Hereditary spastic paraplegia 15 (HSP15/SPG15)
  • Structural brain anomalies with impaired intellectual development and craniosynostosis
  • ZIC2-related holoprosencephaly
  • Dandy-Walker malformation

Performing Lab

Invitae

Turn-Around-Time

10-21 days

Reference Values

No mutations detected