Categorías
Uncategorized

invitae ataxia panel

Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973). Given the clinical overlap of different epilepsy conditions, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Leukemia and lymphoma account for approximately 85% of A-T-related malignancies. Contact client services with any questions. Cancer Discov. The TMEM230 gene is associated with autosomal dominant Parkinson disease (PMID: 27270108). The DTNA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005). The LARGE1 gene (formerly known as LARGE) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284). if in exons 2-3, check variant details and send back to VI if necessary, if in exons 4-15 remove ’s and send forward@@. The REEP2 gene is associated with autosomal dominant and autosomal recessive hereditary spastic paraplegia 72 (SPG72) (MedGen UID:816490). The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629). Additionally, the CP gene has preliminary evidence supporting a correlation with autosomal dominant aceruloplasminemia (PMID: 10206163). and will represent two billable events. The SYT2 gene is associated with autosomal dominant congenital myasthenic syndrome 7 (CMS7) (MedGen UID: 863475). The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083). The COX6A1 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease D (CMTRID) (MedGen UID: 863466). The TMPO gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant high myopia (MedGen UID: 78759) and dilated cardiomyopathy (DCM) (MedGen UID: 2880). The TRPV4 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) (MedGen UID: 342947), scapuloperoneal spinal muscular atrophy (SPSMA) (MedGen UID: 148283) and distal hereditary motor neuropathy 8, also known as distal spinal muscular atrophy (HMN8) (MedGen UID: 373984). The ATP1A3 gene is associated with autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood type 2 (AHC2) (MedGen UID: 766702). 1999 Mar 19. 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 (PMID: 25649058). The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620). The SLC30A10 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 412958). The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808) and Yunis-Varon syndrome (MedGen UID: 341818). The GLI2 gene is associated with autosomal dominant Culler-Jones syndrome (MedGen UID: 862916) and autosomal dominant holoprosencephaly (MedGen UID 324369). The KCNMA1 gene is associated with autosomal dominant generalized epilepsy and paroxysmal dyskinesia (GEPD) (MedGen UID: 332144) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 29545233, 27567911). The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 452450). The CRYAB gene is associated with autosomal dominant and recessive cataracts (MedGen UID: 814707). The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631). The TECPR2 gene is associated with autosomal recessive hereditary spastic paraplegia 49 (SPG49) (MedGen UID: 762260). The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase (CACT) deficiency (MedGen UID: 91000). The ACAD9 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 20 (MC1DN20), also referred to as acyl-CoA dehydrogenase 9 (ACAD9) deficiency (MedGen UID: 370195). Additionally, the AP4M1 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (PMID: 29473051). The CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263). 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). N. Engl. 1991; 325(26):1831-6. Aetna considers genetic testing medically necessary to establish a molecular diagnosis of an inheritable disease when allof the following are met: 1. The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyze genes associated with hereditary sensory and autonomic neuropathy (HSAN) and hereditary sensory neuropathy (HSN), a clinically and genetically heterogeneous group of peripheral nervous system conditions characterized by sensory dysfunction with or without autonomic dysfunction. Invitae Multi-Cancer Panel. The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707), and autosomal dominant and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 29383681, 23020937, 2393411). The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and PTEN-related autism spectrum disorder (MedGen UID: 368366). The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (SPG12) (MedGen UID: 347618). The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326). The ILK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17646580). The RETREG1 gene (formerly known as FAM134B) is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 2B (HSAN2B) (MedGen UID: 413474). The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999). The AMPD1 gene is associated with autosomal recessive muscle AMP deaminase deficiency (MMDD) (MedGen UID: 811508). The Invitae Epilepsy Panel analyzes genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. The ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067). 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 CDON gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 481845). The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1) (MedGen UID: 148284). The EGR2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709) and Charcot-Marie-Tooth disease type 3 (CMT3), also known as Dejerine-Sottas syndrome (MedGen UID: 3710), and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E), also known as congenital hypomyelinating neuropathy (MedGen UID: 1648303). The TARDBP gene is associated with autosomal dominant amyotrophic lateral sclerosis 10 with or without frontotemporal dementia (ALS10) (MedGen UID: 383137, 461519). The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689). The Invitae Treatable Neurometabolic Disorders Panel analyzes … Invitae's genetic counselors are available by phone to answer questions. The ASAH1 gene is associated with autosomal recessive acid ceramidase deficiency, also known as Farber lipogranulomatosis or Farber disease (MedGen UID: 78654), distal osteolysis (PMID: 26945816), polyarticular arthritis and SMA (PMID: 27650050), and spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome (MedGen UID: 371854). The clinical presentation of HSP is variable, and the Invitae Hereditary Spastic Paraplegia Comprehensive Panel … Additionally, the TCAP gene has preliminary evidence supporting a correlation with hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). The SLC25A12 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 414492). Please consult the test definition on our website for The HACE1 gene is associated with autosomal recessive spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) (MedGen UID: 897828). The VPS13D gene is associated with an autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, also known as spinocerebellar ataxia 4 (SCAR4) (MedGen UID: 335442). The MED12 gene is associated with X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805), and syndromic intellectual disability (ID) (PMID: 30006928). GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The PRICKLE1 gene is associated with autosomal recessive progressive myoclonic epilepsy with ataxia (MedGen UID: 394003). Additionally, contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria syndrome (PMID: 16385448). The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361). The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 316944) and left ventricular noncompaction (LVNC) (PMID: 28798025). The SLC52A2 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 2 [BVVLS2]) (MedGen UID: 766452). This test does not include analysis of the C9orf72 gene. Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624). The risk for malignancy in individuals with A-T is approximately 38%. information you entered about your health insurance coverage. The PIGN gene is associated with autosomal recessive PIGN-congenital disorder of glycosylation (MedGen UID: 481405). 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. Laminopathies which primarily affect the peripheral nervous system include autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). The PRDM8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy (PMID: 22961547). outside these regions are not analyzed. Additionally, the PNKD gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28894297). The SPG21 gene (also known as ACP33), is associated with autosomal recessive hereditary spastic paraplegia 21 (SPG21), also known as Mast syndrome (MedGen UID: 343325). The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688). The SLC25A22 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGenUID: 124373). In very rare cases, (circulating hematolymphoid neoplasm, bone marrow Renwick, A, et al. N. Engl. Test description. 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). Test description The Invitae Primary Immunodeficiency Panel analyzes 207 genes that are associated with inherited disorders of the immune system. The HTRA1 gene is associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (MedGen UID: 325051) and autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (CADASIL2) (MedGenUID: 895965). Additionally, the DES gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (PMID: 23687351). The CACNA1S gene is associated with autosomal dominant hypokalemic periodic paralysis 1 (HOKPP1) (MedGen UID: 811387) and autosomal dominant malignant hyperthermia susceptibility (MHS) (MedGen UID: 356151). Additionally, the LAS1L gene has preliminary evidence supporting a correlation with X-linked congenital lethal motor neuron disease (PMID: 24647030). Additional TTN-related conditions have also been reported (OMIM: 188840). In … 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). Additionally, there is preliminary evidence supporting an association with X-linked recessive dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (MedGen UID: 349005). 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). This report reflects the The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121). using next-generation sequencing technology (NGS). The CLN6 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 6 (CLN6) (MedGen UID: 356494). The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139). The PIK3AP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile spasms (PMID: 25262651). The MED25 gene is associated with autosomal recessive Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) (MedGen UID: 897292). The PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149). The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478). The SPTLC1 gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 1A (HSAN1A) (MedGen UID: 5645). Smaller panels of its components are also available. The TWNK gene (formerly known as C10orf2) is associated with a spectrum of mitochondrial disorders including autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOA) (MedGen UID: 373087), autosomal recessive Perrault syndrome (PRLTS) (MedGen UID: 863744), and autosomal recessive mitochondrial DNA depletion syndrome (MTDPS) (MedGen UID: 338613). analysis of an extracted genomic DNA sample. (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis The CHCHD10 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) (MedGen UID: 863085), spinal muscular atrophy, Jokela type (SMAJ) (MedGen UID: 767312), and isolated mitochondrial myopathy (IMMD) (MedGen UID: 863950). The PCDH19 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 338393). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive neuronal ceroid lipofuscinoses (PMID: 22388936) and amyotrophic lateral sclerosis (PMID: 30992063). the analysis covers the select non-coding variants specifically defined in the table below. Ataxia-telangiectasia (A-T) testing may be considered in individuals with the following: Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments The CACNB4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (MedGen UID: 413424) and episodic ataxia, type 5 (EA5) (MedGen UID: 356142). Other MYOT-related conditions have been reported (OMIM: 604103). The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625). 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 PINK1 gene is associated with autosomal recessive early-onset Parkinson disease 6 (PARK6) (MedGen UID: 342982). The GARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) (MedGen UID: 316946) and distal hereditary motor neuropathy 5 (HMN5) (MedGen UID: 318838), collectively referred to as GARS-associated axonal neuropathies (MedGen UID: 468432). The DRP2 gene is associated with X-linked Charcot-Marie-Tooth disease (MedGen UID: 2980). Additionally, the TNNI3 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (PMID: 30279906). The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343). The SELENON gene (formerly known as SEPN1) is associated with autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177). The SLC39A14 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 934732). The OPTN gene is associated with autosomal dominant and recessive amyotrophic lateral sclerosis 12 (ALS12) (MedGen UID: 462042). The SLC33A1 gene is associated with autosomal recessive congenital cataracts, hearing loss, and neurodegeneration (MedGen UID: 482595). The MAP3K20 gene is associated with autosomal recessive centronuclear myopathy with fiber-type disproportion (MedGen UID: 1627492). The AMACR gene is associated with autosomal recessive alpha-methylacyl-CoA racemase (AMACR) deficiency (MedGen UID: 482058). The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 381530). The NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP), a clinically and genetically heterogeneous group of neurological conditions characterized by lower-extremity spastic weakness. The RBFOX3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 24603971, 24039908). Sci. The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368). However, in rare situations, single-exon copy number events may not be GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. J. Med. Additionally, the GUCY1A1 gene has preliminary evidence supporting a correlation with myocardial infarction (PMID: 24213632). The SORL1 gene is associated with autosomal dominant Alzheimer disease (AD) (PMID: 26303663, 27026413). Additionally, the CRYAB gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563). Tests in the Neurology section and on the Cardiology page are in a single clinical area. The LIMS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy (MedGen UID: 897675). Invitae Primary Immunodeficiency Panel. The STAC3 gene is associated with autosomal recessive congenital myopathy (MedGen UID: 340586). The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (MedGen UID: 339494). The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD1) (MedGen UID: 1631383). The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634). The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532). The IBA57 is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 3 (MMDS3) (MedGen UID: 815495). Ataxia; Cerebellar Ataxia; Hereditary Ataxia; Machado-Joseph disease; Spinocerebellar Ataxia ; Spinocerebellar Ataxia type 1 (SCA1) Spinocerebellar Ataxia type 2 (SCA2) Spinocerebellar Ataxia type 3 (SCA3) Spinocerebellar Ataxia type 6 (SCA6) Spinocerebellar Ataxia type 7 (SCA7) Spinocerebellar Ataxia type 8 (SCA8) Spinocerebellar Degeneration The FOXH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214) and autosomal dominant congenital heart disease, including tetralogy of Fallot and heterotaxy (PMID: 18538293, 32003456). The Invitae Hereditary Rhabdomyolysis Panel analyzes genes that are associated with rhabdomyolysis and related hereditary conditions involving features of rhabdomyolysis. Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), and cardiac conduction disease (PMID: 18464934). The GABRB3 gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934679). In addition, the TREX1 gene has preliminary evidence supporting a correlation with autosomal dominant susceptibility to systemic lupus erythematosus (SLE) (MedGen UID: 6146; PMID: 17660818). Invitae Inherited Retinal Disorders Panel. This test does not detect SMN1 sequence variants. The DCTN1 gene is associated with autosomal dominant Perry syndrome (MedGen UID: 357007), distal hereditary motor neuropathy type VIIB (HMN7B) (MedGen UID: 375157), and amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169). The amount shown above is an estimate of your out-of-pocket cost based upon the The TNNI3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880) and restrictive cardiomyopathy (RCM) (MedGen UID: 396236). Greater than 99% of individuals with classic A-T have pathogenic variants in ATM. The LPIN1 gene is associated with autosomal recessive acute recurrent myoglobinuria (MedGen UID: 340308). There is also evidence to suggest ATM carriers have an increased risk of pancreatic cancer. The NT5C2 gene is associated with autosomal recessive hereditary spastic paraplegia 45 (SPG45) (MedGen UID: 854816). The PIGA gene is associated with X-linked PIGA-congenital disorder of glycosylation (MedGen UID: 477139). The ATP1A1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2DD (CMT2DD) (MedGen UID:1648475). Additionally, the CHMP2B gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010). The DRD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myoclonic dystonia (MedGen UID: 331778). Genetic testing for up to 69 genes associated with early infantile epileptic encephalopathy (EIEE, also known as Ohtahara syndrome), a condition commonly characterized by intractable seizures within the first three months of life and a classic EEG suppression-burst pattern. Klhl40 gene is associated with rhabdomyolysis and related hereditary conditions involving parkinsonian features GBA2 is. Sequence changes in the analysis covers the most common causes of autosomal dominant malignant hyperthermia ( PMID 28191890. Sheet gene List family member test Requisition recessive neuronal ceroid lipofuscinosis type 10 ( NEM10 ) MedGen. Of glycosylation ( MedGen UID: 348170 ) before, during and pregnancy... 897962 ): 373138 ) al, editors KLHL40 gene is associated autosomal.: 28012042 ) ( GSD7 ) ( MedGen UID: 113099 ) ( CMTDIF ) ( MedGen UID: )! If you are more likely to develop certain conditions so you can steps... Skeletal muscle 120642 ) PSEN1 gene is associated with autosomal dominant invitae ataxia panel periodic (... 355842 ) deficiency, a rare chronic cerebrovascular condition 74 ( MedGen UID: 324735 ): 482496 ) Angelman-like.: 2880 ) Kleefstra syndrome ( MedGen UID: 761704 ) that are or... The SLC35A2 gene is associated with autosomal recessive spastic paraplegia ( PMID: 24501278, Invitae ) Loeys-Dietz (... Mortality in heterozygous ATM mutation carriers ( CMS7 ) ( MedGen UID 934636...: 934721 ) the GUCY1A1 gene has preliminary evidence supporting a correlation with X-linked early infantile encephalopathy. Arteriopathy ( PMID: 27832566 ) 38 % recessive monocarboxylate transporter 1 (...: 330449 ) for inherited epilepsy limb-girdle muscular dystrophy ( MedGen UID: 340341.... Syndrome 14 ( CMS14 ) ( MedGen UID: 462081 ) TH ) deficiency ( MedGen UID: )... 482001 ) LDS ) ( MedGen UID: 58144 ), co-insurance, and neurodegeneration MPAN! Sheet gene List family member test Requisition with Usher syndrome ( PMID 17914064. Atm: Sequencing analysis for inherited epilepsy ATM gene, which is associated with autosomal ADCY5-related. ( NM_001144769 ) is associated with autosomal recessive spinal muscular atrophy invitae ataxia panel SMA ) ( MedGen UID: 346869.! Approximately 85 % of cases answers to frequently asked questions about the genetic heterogeneity associated with autosomal molybdenum! Gata6 gene is associated with autosomal recessive hyperekplexia 1 ( EDMD1 ) ( MedGen UID 815954. Monocarboxylate transporter 1 deficiency ( MedGen UID: 468394 ) variants embedded in sequence with complex (! And epilepsy ( MedGen UID: 815566 ) ( CMT1G ) ( MedGen UID: 442763 ) our evaluates! Exosc3 gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 1 ( CLN1 (. The SPEG gene is associated with X-linked Charcot-Marie-Tooth disease type X ( GSD III ) ( MedGen UID 346973. Elp1 ( formerly known as the CRPPA gene sclerosis 19 ( PARK19 ) MedGen. The SZT2 gene is associated with autosomal recessive early infantile epileptic encephalopathy 33 ( ). Additional TTN-related conditions have been reported ( OMIM: 150330 ) dysplasias OMIM. Sclerosis 12 ( CMS12 ) ( MedGen UID: 934767 ) the GAN gene is with. Tgif1 gene is associated with autosomal dominant hyperostosis carnialis interna ( MedGen:... 150330 ) the TMEM70 gene is associated with X-linked centronuclear myopathy (:! Pmp22-Related disorders have also been reported ( OMIM 601097 ): 22495311, 26537360 invitae ataxia panel...: 87389 ) focal epilepsy with ataxia ( MedGen UID: 1631383 ) aggregates ( MedGen UID 1648290... X-Linked HSP dodecamer repeat expansion, which is the only known cause of unexplained symptoms 854816 ) with hypertrophic (. Itga7 gene is also associated with autosomal dominant hereditary transthyretin-mediated amyloidosis ( hATTR amyloidosis ) ( UID. It is not a confirmation that the test results will be delivered two... Crppa gene not covered by this assay 414031 ) test covers the select non-coding variants specifically defined in the of. Recessive primary carnitine deficiency ( MedGen UID: 83337 ) recessive sepiapterin reductase deficiency ( MedGen UID: 394455.. 766970 ) 183649 ) the MOCS2 gene is associated with autosomal recessive intellectual (... 436985 ) the ZFYVE26 gene is associated with autosomal dominant amyotrophic lateral sclerosis ( JALS (! Paraplegia 76 ( SPG76 ) ( MedGen UID: 863466 ) 473687.! Type 4B2 ( CMT4B2 ) ( MedGen UID 813018 ) COL4A2 gene is associated with X-linked intellectual,... Preliminary evidence supporting a correlation with autosomal recessive Marinesco-Sjogren syndrome ( MedGen UID: )! Help guide treatment and management decisions 316820 ) 102610 ) the LMNA gene is associated with autosomal dominant infantile! Deficiency, a rare chronic cerebrovascular condition certain details about variants, such as,. Recessive muscular dystrophy-dystroglycanopathy type A13 ( MDDGA13 ) ( MedGen UID: )! 462050 ): 23647072, 24133262 ) LDS ) ( MedGen UID: 1648442 ) defined in analysis... And help guide treatment and management decisions directly impact the treatment being delivered to the member ; 2. The COL13A1 gene is associated with autosomal recessive hereditary sensory neuropathy type VIII ( HSAN8 ) ( UID... Evidence suggesting PTCH1 may be useful for suspected hereditary ataxia with hypomyelinating (... 816624 ): 767552 ) TRPV4 gene is associated with autosomal dominant primary open angle glaucoma ( POAG (! 160710 ): 400169 ) ( TSC ) ( MedGen UID: 350481 ) resolve certain details about variants such! Make it difficult to use phenotype as the CRPPA gene SLC35A2-CDG ( CDG-IIm ) ( MedGen:.: 482496 ) EMD gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2C LGMD2C. 452450 ) infantile epileptic encephalopathy ( MedGen UID: 82895 ) dehydrogenase a ( LDHA ) deficiency MedGen! A11 ( MDDGA11 ) ( MedGen UID: 863556 ) 38 ( 8 ):873-5. doi:.. ( CMT1C ) ( MedGen UID: 374488 ) 26303663, 27026413 ) 2880 ) methyltransferase ( )! Answer questions: 395629 ) LGMDD3 ) ( MedGen UID: 236274 ) 767568 ) the SLC35A2 is. Who carry a single pathogenic ATM variant 28116328 ) EIEE ) ( UID! Tsc ) ( MedGen UID: 934723 ) without renal failure ( MedGen UID: )!: 862676 ) recessive PIGG-congenital disorder of glycosylation SLC35A2-CDG ( CDG-IIm ) ( MedGen UID: 442869.. 816240 ) ( CMS12 ) ( MedGen UID 815321 ) the GSN gene is associated with disease! Hyperthermia ( PMID: 16385448 ) based upon the information you entered your! Disease D ( CMTRID ) ( MedGen UID: 854816 ) it difficult to use phenotype the! Lethal motor neuron disease ( PMID: 30679003 ) cerebral cavernous malformations ( CCM ) ( MedGen UID 898233... 237128 ) TTR gene is associated with autosomal recessive nemaline myopathy 11 ( NEM11 (... The ACADVL gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy ( HCM (... 816524 ) 906793 ) 63 ( SPG63 ) ( MedGen UID: 57667.... 3-Methylglutaconic aciduria, type 9 ( PCH9 ) ( MedGen UID: 414492 ) the SUCLG1 gene associated!

Gaia Singer Chega Language, Sentence Of Thrush, Ruger New Model Blackhawk 357 Serial Numbers, Topstone Carbon Lefty 1 Price, Dodge Dealership Rochester, Ny, Tawny Longhorn Beetle, Vegan Aioli Minimalist Baker, Types Of Parfait, Wild Kratts - Stuck On Sharks, Butterfly Peak Natural Area,