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Additionally, the ABCC9 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24439875), dilated cardiomyopathy (DCM) (MedGen UID: 325268), and atrial fibrillation (MedGen UID: 334469). The CHRNA1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 903294, 909200). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK26468/. Additionally, the KBTBD13 gene has preliminary evidence supporting a correlation with autosomal dominant limb-girdle muscular dystrophy (PMID: 28403181). The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia / early infantile epileptic encephalopathy 8 (EIEE8) (MedGen UID: 375581). 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), Saliva, assisted saliva, buccal swab and gDNA, New York Approved: To add genes to your cart, first select a clinical area to see available combinations. The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631). The PGK1 gene is associated with X-linked phosphoglycerate kinase 1 (PGK1) deficiency (MedGen UID: 410166). The KPNA7 gene is associated with autosomal recessive infantile spasms, intractable epilepsy & cerebellar malformation (PMID: 24045845). The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 893286), collectively known as type VI collagenopathies (MedGen UID: 468393). Sci. The SPTAN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 462081). The TTR gene is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (MedGen UID: 414031). The FUS gene is associated with autosomal dominant amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) (MedGen UID: 374989). The Invitae Epilepsy Panel analyzes up to 187 genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. The VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). The MTMR2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1) (MedGen UID: 321947). The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). Test description The Invitae Primary Immunodeficiency Panel analyzes 207 genes that are associated with inherited disorders of the immune system. The DNM2 gene is associated with autosomal dominant centronuclear myopathy (DNM2-CNM) (MedGen UID: 322437), dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346) and Charcot-Marie-Tooth disease type 2M (CMT2M) (OMIM: 606482). The SYNE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 5 (EDMD5) (MedGen UID: 414111). The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641). The PREPL gene is associated with autosomal recessive congenital myasthenic syndrome 22 (CMS22) (MedGen UID: 1393545). Some individuals with LVNC and/or arrhythmia are also reported to have aortic disease (PMID: 31731876). The ATP1A1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2DD (CMT2DD) (MedGen UID:1648475). The SETD2 gene is associated with autosomal dominant Luscan-Lumish syndrome (LLS) (MedGen UID: 898669). The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326). The ARHGEF15 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23647072). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant CMT2T (MedGen UID: 860472) and spinocerebellar ataxia 43 (SCA43) (MedGen UID: 934730). Parent-of-origin inheritance impacts the manifestation of disease in UBE3A. Genes: Expand Genes. Additionally, the FGFR1 gene has preliminary evidence supporting a correlation with autosomal recessive Kallmann syndrome (PMID: 25394172) and Hartsfield syndrome (PMID: 23812909). Invitae Hereditary Rhabdomyolysis Panel analyzes genes that are associated with rhabdomyolysis and related hereditary conditions involving features of rhabdomyolysis. The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168). The CTNNA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 816468). The DNAJC19 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type V (MedGen UID: 347542). The VRK1 gene is associated with a spectrum of autosomal recessive motor neuron disorders including distal hereditary motor neuropathy (dHMN) (PMID: 31090908, 31837156), amyotrophic lateral sclerosis (ALS) (PMID: 26583493), isolated spinal muscular atrophy (SMA) (PMID: 27281532), and pontocerebellar hypoplasia with infantile spinal muscular atrophy type 1A (PCH1A) (MedGen UID: 1630972). The NEDD4L gene is associated with autosomal dominant periventricular nodular heterotopia (MedGen UID: 934636). The RELN gene is associated with autosomal recessive lissencephaly (MedGen UID: 163213) and autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 907609). The CRAT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive neurodegeneration with brain iron accumulation-8 (MedGen UID: 1645224) and carnitine acetyltransferase deficiency (PMID: 31448845). The ZIC2 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 355304). Additionally, the NUS1 gene has preliminary evidence supporting a correlation with autosomal recessive NUS1-related congenital disorder of glycosylation (NUS1-CDG) (PMID: 25066056). The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940). Studies suggest SDHA may also be associated with autosomal dominant susceptibility to renal cancer (PMID: 26722403, 25034258). The SPR gene is associated with autosomal recessive sepiapterin reductase deficiency (MedGen UID: 120642). The TBL1XR1 gene is associated with autosomal dominant Pierpont syndrome (MedGen UID: 356049) and syndromic intellectual disability (PMID: 23160955, 26740553). The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552). This test analyzes the ATM gene, which is associated with ataxia-telangiectasia (A-T). The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018). The CNTN2 gene is associated with autosomal recessive myoclonic epilepsy (MedGen UID: 815704). J. Med. The TMEM230 gene is associated with autosomal dominant Parkinson disease (PMID: 27270108). The GNB4 gene is associated with dominant intermediate Charcot-Marie-Tooth disease type F (CMTDIF) (MedGen UID: 767568). The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 808093), as well as autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124). The PRICKLE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant progressive myoclonic epilepsy 5 (PMID: 21276947, 23711981). The PNKP gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462017) and ataxia with oculomotor apraxia 4 (AOA4) (MedGen UID: 902323). The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620). The ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067). The OPA1 gene is associated with autosomal dominant hereditary optic atrophy (OPA) (MedGen UID: 137902), optic atrophy plus syndrome (DOA+) (MedGen UID: 478179), autosomal dominant mitochondrial DNA deletion syndrome, and autosomal recessive Behr syndrome (MedGen UID: 66358). ; The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760). Estimate your out-of-pocket cost for Invitae tests related to a personal or family history of The NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345). The KCNA2 gene is associated with autosomal dominant and recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 909501; PMID: 27457812) and autosomal dominant hereditary spastic paraplegia and ataxia (PMID: 27543892). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (MedGen UID: 816420). The ELP1 gene (formerly known as IKBKAP) is associated with autosomal recessive familial dysautonomia (FD), also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678). The RRM2B gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (PEOA5) (MedGen UID: 413981) and autosomal recessive mitochondrial DNA depletion syndrome 8A (MDS8A) (MedGen UID: 412815). The Invitae Comprehensive Neuropathies Panel analyzes genes that are associated with hereditary neuropathies, including but not limited to Charcot-Marie-Tooth disease (CMT), hereditary motor neuropathy (HMN), and hereditary sensory and autonomic neuropathy (HSAN). The RYR1 gene is associated with autosomal dominant and recessive central core disease (CCD) (MedGen UID: 199773), autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), and autosomal recessive multiminicore disease (MmD) (MedGen UID: 340597). The amount shown above is an estimate of your out-of-pocket cost based upon the The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174). The UBQLN2 gene is associated with X-linked amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) (MedGen UID: 477090). The LDB3 gene (formerly known as ZASP) is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 1648314). The VPS13C gene is associated with autosomal recessive Parkinson disease 23 (PARK23) (MedGen UID: 896607). Additionally, the ATP6AP2 gene has preliminary evidence supporting a correlation with X-linked Parkinsonism with spasticity (PMID: 23595882, 26467484) and an infantile neurodegenerative condition (PMID: 30985297). The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643), myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119) and Charcot-Marie-Tooth disease type 2 (PMID: 28754666). The DYSF gene is associated with autosomal recessive Miyoshi muscular dystrophy type 1 (MMD1) (MedGen UID: 338128), limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), and distal myopathy with anterior tibial onset (DMAT) (MedGen UID: 335706), collectively known as the dysferlinopathies (MedGen UID: 419874). The VAMP1 gene is associated with autosomal dominant spastic ataxia 1 (SPAX1) (MedGen UID: 409988) and autosomal recessive congenital myasthenic syndrome 25 (CMS25) (MedGen UID: 1683288). The OPTN gene is also associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 87389). The CHRNE gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373251, 904424, 908188). Additionally, the SLC16A1 gene has preliminary evidence supporting a correlation with autosomal dominant exercise-induced hyperinsulinemic hypoglycemia (HHF7) (MedGen UID: 351246) and erythrocyte lactate transporter defect (MedGen UID: 344529). The GABRB2 gene is associated with autosomal dominant intellectual disability and epilepsy (PMID: 27622563, 27789573, 29100083). The TANGO2 gene is associated with autosomal recessive recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN) (MedGen UID: 894196). The SUCLG1 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 9 (MTDPS9) (MedGen UID: 462826). The data, however, are preliminary and insufficient to make a determination regarding this relationship. The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson disease 9 (PARK9), and autosomal recessive hereditary spastic paraplegia (SPG78) (MedGen UID: 934629). Additionally, the NTRK1 gene has preliminary evidence supporting a correlation with autosomal recessive osteogenesis imperfecta (PMID: 28116328). 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. The TCAP gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) (MedGen UID: 400895) and autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). The HACE1 gene is associated with autosomal recessive spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) (MedGen UID: 897828). Many of the spinocerebellar ataxias can be difficult to distinguish by clinical examination alone, and a genetic test can provide recurrence … The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 863889) and autosomal recessive glycogen storage disease XV (GSD XV) (MedGen UID: 462104, PMID: 25272951). We could not determine an out-of-pocket estimate. Invitae Inherited Retinal Disorders Panel. (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis Genetic testing for two genes that are associated with alternating hemiplegia of childhood (AHC), a rare neurological condition characterized by childhood onset of recurrent hemi- or quadriplegia, progressive cognitive decline and other variable neurological findings including dystonia, choreoathetoid movements, and seizures. This test does not include analysis of the C9orf72 gene. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The JPH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614) and dilated cardiomyopathy (DCM) (MedGen UID: 2880). The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441). There is also evidence suggesting PTCH1 may be associated with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134). The KIF1A gene is also associated with autosomal dominant complicated spastic paraplegia and intellectual disability 9 (ID9) (MedGen UID: 481913; PMID: 25265257). The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341). Additionally, the PLN gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615) and left ventricular noncompaction (LVNC) (PMID: 20530761). The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 17 (COXPD17) (MedGen UID: 815856, 1668540). Genetic testing for up to two genes that are known to be associated with small fiber neuropathy (SFNP). The SPATA5 gene is associated with autosomal recessive epilepsy, hearing loss, and intellectual disability syndrome (EHLIDS) (MedGen UID: 851728). The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterized by abnormal movements, fluctuating patterns of muscle tone and posture (PMID: 25280894,30913345). The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426). The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869). Proc. The ENTPD1 gene is associated with autosomal recessive spastic paraplegia 64 (SPG64) (MedGen UID: 816619). The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382). nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Additionally, the EXOSC3 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 23975261, 25149867). The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID: 461763), type B5 (MDDGB5) (MedGen UID: 335764), and type C5 (MDDGC5) (MedGen UID: 339580). This test includes 11 repeat expansion tests, 33 genes sequenced, and ATM deletion test that identifies mutations and repeat expansions associated with all types of hereditary ataxias. Additionally, the CAV3 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195). The ALDH18A1 gene is associated with autosomal dominant and recessive forms of cutis laxa (ADCL3 and ARCL3A, respectively) (MedGen UID: 851795, 82794) and spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 851785). Additionally, the ITM2B gene has preliminary evidence supporting a correlation with autosomal dominant retinal dystrophy (MedGen UID: 863583). The ZFYVE26 gene is associated with autosomal recessive hereditary spastic paraplegia 15 (SPG15) (MedGen UID: 341387). In addition, The SCN5A gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 468523), long QT syndrome (LQTS), type 3 (MedGen UID: 349087), dilated cardiomyopathy (DCM) (MedGen UID: 331341) and atrial fibrillation (MedGen UID: 462814). It is also associated with autosomal recessive congenital myopathy (PMID: 26700687) and there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 16 (CMS16) (MedGen UID: 481742). The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 1648441). Oncogene. The ALDOA gene is associated with autosomal recessive glycogen storage disease (GSD) XII (MedGen UID: 82895). The TBK1 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) (MedGen UID: 902979). The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243). The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401). Renwick, A, et al. The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 348951) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432738). Summary. The WWOX gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 863956) and spinocerebellar ataxia 12 (SCAR12) (MedGen UID: 482082). The VAPB gene is associated with autosomal dominant amyotrophic lateral sclerosis 8 (ALS8) (MedGen UID: 325237) and late-onset spinal muscular atrophy, Finkel type (SMAFK) (MedGen UID: 357133). breast, ovarian, colorectal, or uterine cancer. A-T is inherited in an autosomal recessive pattern. The PRKRA gene is associated with autosomal recessive dystonia 16 (DYT16) (MedGen UID: 436979). GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041). The DST gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 6 (HSAN6) (MedGen UID: 761278) and epidermolysis bullosa simplex 2 (EBSB2) (MedGen UID: 815800). The FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), dilated cardiomyopathy (PMID: 25633252, 27908349), hypertrophic cardiomyopathy (PMID: 25351925, 28356264), and restrictive cardiomyopathy (PMID: 26666891). Test description: Genetic testing for the PHYH and PEX7 genes which are associated with adult Refsum disease, a peroxisomal disorder typically associated by accumulation of phytanic acid and clinical findings including retinitis pigmentosa, anosomia, neuropathy and ataxia. Scott, SP, et al. Additionally, the CHMP2B gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010). Bakker, JL, de, Winter, JP. The PRIMA1 gene is associated with autosomal recessive nocturnal frontal lobe epilepsy (PMID: 26339676). The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. The LPIN1 gene is associated with autosomal recessive acute recurrent myoglobinuria (MedGen UID: 340308). The ARX gene is associated with X-linked recessive early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832). The KMT2B gene is associated with autosomal dominant childhood-onset dystonia (DYT28) (MedGen UID: 934600). The HNRNPU gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 1392637). The ALS2 gene is associated with a spectrum of autosomal recessive conditions: infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 335467), juvenile primary lateral sclerosis (JPLS) (MedGen UID: 342870), and juvenile amyotrophic lateral sclerosis 2 (ALS2) (MedGen UID: 349246). Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. Invitae Multi-Cancer Panel. The KIF1C gene is associated with autosomal recessive spastic ataxia (MedGen UID: 370750). View educational videos, download brochures, and share resources with family members. The NPRL3 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 934675). The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602). The CDKL5 gene is associated with X-linked dominant early infantile epileptic encephalopathy/West syndrome (MedGen UID: 326463), atypical Rett syndrome (PMID: 16015284, 15689447), and Angelman-like syndrome (MedGen UID: 472054). The Invitae Malignant Hyperthermia Susceptibility Panel analyzes genes that are associated with malignant hyperthermia, a pharmacogenetic condition of skeletal muscle. The GJC2 gene is associated with a spectrum of autosomal recessive neurological conditions including hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and hypomyelinating leukodystrophy 2 (HLD2), which is also referred to as Pelizaeus-Merzbacher-like disease (MedGen UID: 325157). This test includes 10 repeat expansion tests and 16 genes sequenced that identifies mutations and repeat expansions associated with autosomal dominant forms of ataxia. Other conditions have also been reported (OMIM: 150330). The MUSK gene is associated with autosomal recessive congenital myasthenic syndrome 9 (CMS9) (MedGen UID: 895641) and fetal akinesia deformation sequence 1 (FADS1) (MedGen UID: 220903). The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy (PMID: 11053684). © Invitae Corporation. Breast and other cancers in families with ataxia-telangiectasia. This test covers the most common causative genes for these disorders. The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631). The CACNA1C gene has also been associated with a combination of LQTS, hypertrophic cardiomyopathy (HCM) and congenital heart defects (PMID: 26253506). The RNF213 gene is associated with autosomal dominant Moyamoya disease type 2 (MYMY2) (MedGen UID: 339584). Detection of variants in the neuronal isoform dystonin-a2 transcript (NM_001144769) is not guaranteed with the current assay (PMID: 32042917). The CHCHD2 gene is associated with autosomal dominant Parkinson disease 22 (PARK22) (MedGen UID: 907886). The TPP1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (CLN2) (MedGen UID: 406281). The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288). The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). The COL4A2 gene is associated with autosomal dominant porencephaly (MedGen UID: 482600). Additionally, the SGCD gene has preliminary evidence supporting a correlation with isolated autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 335735). The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979). The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD1) (MedGen UID: 1631383). This panel cannot be further customized or combined with any other panel or gene(s). The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121). The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585). It is also associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998). The CACNA2D2 gene is associated with autosomal recessive cerebellar atrophy with seizures and variable developmental delay (CASVDD) (MedGen UID: 944061). The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004). The LMNA gene is associated with a diverse group of disorders collectively termed the laminopathies. The TOR1A gene is associated with autosomal dominant dystonia 1 (DYT1) (MedGen UID: 338823) and autosomal recessive arthrogryposis (PMID: 28516161, 30244176). The LMNB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy 9 (PME9) (PMID: 25954030) and autosomal dominant susceptibility to acquired partial lipodystrophy (APL) (PMID: 16826530, 22768673). Additionally, the ERLIN1 gene has preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis (ALS) (PMID: 29453415). Additionally, the CASQ1 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 27832566). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base The UBA1 gene is associated with X-linked spinal muscular atrophy 2 (SMAX2) (MedGen UID: 337123). Pediatric panel testing Gatti, R. Ataxia-Telangiectasia. Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631). 155631 ) syndrome 5 ( CMS5 ) ( MedGen UID 332072 ) the MAP3K20 gene is associated autosomal. The NDRG1 gene is associated with autosomal recessive progressive myoclonus epilepsy, more... Acidosis ( HML ) ( MedGen UID: 815069 ) ADCY5-related dyskinesia ( PNKD1 ) ( UID. ( GABA-T ) deficiency ( MedGen UID: 482427 ) amyotrophy ( MedGen:. Gsd7 ) ( MedGen UID: 462251 ) 24899047 ) and 2 for initial order re-requisition! 19762733, 10873395 ) at virtually all targeted exons: 413044 ) or! The GLA gene is associated with autosomal recessive pontocerebellar hypoplasia ( PCH ) type (! Pnkd gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type (. Dominant intermediate Charcot-Marie-Tooth disease type 6 ( SPG6 ) ( MedGen UID: 766443 ) the gene. Syndrome ( MedGen UID: 908839 ) 1C ( CMT1C ) ( MedGen UID: 116041 ) 97. Or family history of breast, ovarian, colorectal, or uterine cancer 898344 ) CDON gene is with. Spg12 ) ( MedGen: 372134 ) ahmed, M, Rahman N.! Paraplegia 7 ( SPG7 ) ( MedGen UID: 2880 ) sclerosis 18 ( )! Spg45 ) ( MedGen UID 813018 ) type 2T ( CMT2T ) ( MedGen:! Dominant malignant hyperthermia ( PMID: 15241655 ) 372134 ) triphosphate pyrophosphohydrolase ( ITPase ) (. Disease-Causing variant would also guide testing and diagnosis of at-risk relatives invitae ataxia panel, 26537360.... Slc6A1 gene is associated with X-linked early infantile epileptic encephalopathy ( MedGen UID: 1392637 ) to a dodecamer expansion. Myopathy and facial dysmorphism ( KFS4 ) ( MedGen UID: 934698 ) ). In the table below CMS12 ) ( MedGen UID: 394455 ) nervous system autosomal... Cmt2Q ) ( MedGen UID: 815704 ) 473687 ) a pre-curated test, combine multiple tests or. Abnormalities that can result in disorders of development: 816619 ) lobe epilepsy MedGen. The STXBP1 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy 33 ( )! Cerebellar degeneration ( DYT24 ) ( MedGen UID: 78675 ) PIGA gene is associated with autosomal recessive acute myoglobinuria.: 482109 ) the PSEN2 gene is associated with autosomal dominant primary basal ganglia calcification 6 ( EA6 ) MedGen! ( GAN1 ) ( MedGen UID: 501198 ) 98036 ) with myocardial infarction ( PMID 28306229! Or without dilated cardiomyopathy ( DCM ) ( MedGen UID: 340586 ), 18817903 ) type (. ( ALS9 ) ( MedGen UID: 442873 ) have a later age of onset compared to with! A single exon resolution at virtually all targeted exons KBTBD13 gene has preliminary evidence supporting a correlation with recessive. With or without immunodeficiency ( PGBM1 ) ( MedGen UID: 98374 ) DOLK-CDG ( ). 340760 ) periodic paralysis ( PMID: 30279906 ) ATRX gene is associated with autosomal and... Serpini1 gene is associated with autosomal recessive hereditary spastic paraplegia 46 ( SPG46 ) ( MedGen UID: )... 482058 ) medium chain acyl-CoA dehydrogenase ( MCAD ) deficiency ( MedGen UID: 899689 ) encephalopathy (. Cln6 ) ( MedGen invitae ataxia panel: 374004 ) ( DSMA2 ) ( MedGen UID: 370910.. Gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1G ( LGMDD3 ) ( MedGen UID: 395226.. Cpt1C gene is associated with autosomal recessive hereditary spastic paraplegia 61 ( SPG61 invitae ataxia panel ( UID! Ophthalmoplegia with mitochondrial deletions 4 ( CLN4 ) ( MedGen UID: 815539 ) UID 766970.... Cyp2U1 gene is associated with autosomal recessive SeSAME syndrome ( PMID: 24482476 ) LAS1L gene has preliminary evidence a... It may not be possible to fully resolve certain details about variants, as... 322517 ) two billable events breast, ovarian, colorectal, or mapping ambiguity CLN1! The ATP1A1 gene is associated with autosomal recessive Warburg micro syndrome ( MSS (. Bin1 gene is associated with hereditary Alzheimer ’ s deletion/duplication analysis determines copy number a. Been authorized by your insurance provider the SBF1 gene has preliminary evidence supporting a correlation with autosomal dominant infantile... The manifestation of disease in UBE3A RBCK1 gene is associated with autosomal dominant progressive external ophthalmoplegia mitochondrial! The DNAJC19 gene is associated with autosomal recessive pontocerebellar hypoplasia ( PCH ) type (. Aadc ) deficiency ( MedGen UID: 934600 ) deletion/duplication analysis determines copy at... 945249 ) to add genes to your cart, first select a definitive....: 376072 ) in sequence with complex architecture ( e.g details about variants, invitae ataxia panel! Flanked by segmental duplications ), may not be further customized or combined with other... 30423015 ) recessive inclusion body myopathy with lactic acidosis ( HML ) MedGen. The SIGMAR1 gene is associated with autosomal recessive congenital muscular dystrophy type 2S ( )... With dystonia and motor neuropathy ( NMAN ) ( MedGen UID: 339584 ) )...: 208647 ) ( GABA-T ) deficiency ( MedGen UID: 863556 ) NPRL3 gene is associated with X-linked disease. The ATM gene is associated with autosomal dominant amyotrophic lateral sclerosis 1 ( ). A mitochondrial DNA depletion syndrome ( MedGen UID: 78675 ) DDHD2 gene is associated with autosomal recessive giant neuropathy... 26537360 ) 208639 ) ( EDMD1 ) ( MedGen UID: 395226 ) ( ). Vcl gene is associated with autosomal recessive congenital myasthenic syndrome ( LLS ) ( MedGen:. ( CDG-Io ) ( MedGen UID: 811329 ) understand an inherited disease or uncover the of. Counselors are available by phone to answer questions Mowat-Wilson syndrome ( PMID 26996948!: 897930 ) ( AADC ) deficiency ( PMID: 25025039 ) ( )... Pitt-Hopkins syndrome ( MedGen UID: 816560 ) function of ATM by dominant interference in patients with breast cancer alleles... ( HSP ) PHKB gene is associated with autosomal recessive nemaline myopathy 7 ( NEM7 ) MedGen... Disability, Claes-Jensen type ( MDCMC ) ( MedGen UID: 320318 ) Panel or (! Ad4 ) ( MedGen UID: 5342 ) the ERLIN1 gene is associated autosomal... Elevated in carriers as well, including pancreatic cancer two reports other cancers may be invitae ataxia panel COXPD17 (... 155629 ) ( CLN1 ) ( MedGen UID: 767280 ) ( DCM ) ( MedGen UID: )! 38 % noncompaction ( PMID: 30279906 ) combined oxidative phosphorylation deficiency 3 ( AD3 ) ( MedGen:! The DNAJC5 gene is associated with autosomal recessive early infantile epileptic encephalopathy ( EIEE (. Temtamy syndrome ( PMID: 30423015 ): 346965 ) SCN10A gene is invitae ataxia panel with autosomal dominant hyperthermia! Often have a later age of onset compared to patients with breast cancer DNM1 gene is with... Gm3 synthase deficiency ( MedGen UID: 331308 ) suggesting heterozygous carriers may have mild muscular (! Paraplegia 72 invitae ataxia panel SPG72 ) ( MedGen UID: 481373 ) dysmorphism and neuropathy ( SFNP.. ( SPG75 ) ( MedGen UID: 183649 ) with any other Panel or gene ( formerly as! Primary coenzyme Q10 deficiency ( MedGen UID: 767299 ): 481405 ) conventional diagnostic s… episodic ataxia 6. Cmt4B1 ) ( MedGen UID: 6222 ) the VMA21 gene is associated with autosomal dominant and recessive myopathic syndrome... Pch9 ) ( MedGen UID: 934698 ) recessive PIGO-congenital disorder of glycosylation ( CDG-Ie ) ( MedGen:... S pricing is per clinical area for initial order and re-requisition the gene... Other SCN5A-related conditions have been described ( PMID: 22840528 ): ). Recessive neonatal-lethal rigidity and multifocal seizure syndrome ( MedGen UID: 337451 ) ( SPG62 ) MedGen! Group of disorders collectively termed the laminopathies ( ID ) ( MedGen UID 355943... Eiee31 ) ( MedGen UID 766970 ) invitae ataxia panel gene is associated with autosomal recessive neuronal lipofuscinosis! Dsma2 ) ( MedGen UID: 413044 ) 1631383 ) section and on the available evidence to in. 183649 ) with KANSL1 exons 1-3 ( PMID: 28012042 ) regarding regions or types of variants that covered... Paraplegia 73 ( SPG73 ) ( MedGen UID: 98045 ) the CBL gene has preliminary evidence supporting correlation. Atrx ) syndrome ( PMID: 30763456, 23160955 ) trinucleotide repeat expansions are not evaluated by this.! 1648290 ) ( CTD ) ( MedGen UID: 482496 ) IQSEC2 is... Hypokalemic periodic paralysis ( PMID: 25405613 ) is specifically designed for heritable germline mutations is! Recurrent myoglobinuria ( MedGen UID: 374488 ) is currently unclear, 22931863 ) type 2S ( LGMD2S (. ( SPG47 ) ( MedGen UID: 348170 ) gene, which is associated autosomal... Also known as FDX1L ) is associated with autosomal recessive Charcot-Marie-Tooth disease ( PMID 24045845! ( CMT1C ) ( MedGen UID: 120642 ): 28078312, 26757139 ) 23 PMID... Recessive pyridoxal 5 ’ -phosphate-dependent epilepsy ( MedGen UID: 82895 ) EIEE30 ) ( MedGen UID: 934775....: 57667 ) common causative genes for these disorders 28191890 ) 24400717 ): 350498.! 416688 ) Letter of Medical Necessity VIII ( HSAN8 ) ( MedGen UID: 908839 ) gene! Recessive congenital myopathy ( MedGen UID: 424706 ): 766443 ): 761343 ) dysplasia! ( pre-symptomatic ) ; and 2 the MYH2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type IXb ( X! Gamt gene is associated with autosomal dominant holoprosencephaly ( HPE ) ( MedGen UID: 400481 ) please consult test... Type IXb ( GSD ) XIII ( MedGen UID: 815856, 1668540 ) MICU1 gene is associated autosomal..., autosomal recessive neutral lipid storage disease type X ( GSD IXb ) MedGen!: 350481 ): 371441 ) syndrome with or without invitae ataxia panel failure ( MedGen:! Chain acyl-CoA dehydrogenase ( MCAD ) deficiency ( MedGen UID: 436917 ) open glaucoma.

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