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). The PIGQ gene is associated with autosomal recessive PIGQ-congenital disorder of glycosylation (MedGen UID: 945249). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735). The NUS1 gene is associated with autosomal dominant developmental and epileptic encephalopathy (PMID: 29100083). The PRPS1 gene is associated with a spectrum of X-linked conditions including Charcot-Marie-Tooth disease type 5 (CMTX5) (MedGen UID: 374254), Arts syndrome (MedGen UID: 163205), phosphoribosylpyrophosphate synthetase (PRS) superactivity (MedGen UID: 370358), and congenital sensorineural deafness type 1 (DFNX1) (MedGen UID: 336749). The JMJD1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Rett syndrome (PMID: 26181491), intellectual disability and autism spectrum disorder (PMID: 26181491, 28554332). The KIF1A gene is associated with autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798) and spastic paraplegia 30 (SPG30) (MedGen UID: 372152). It is also associated with autosomal recessive and autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 808163) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 443948). 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 NEXN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 413929), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617), and left ventricular noncompaction cardiomyopathy (PMID: 28798025, 30471092). Please. The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462336). The TREX1 gene is associated with autosomal recessive (and rarely, autosomal dominant) Aicardi-Goutieres syndrome 1 (AGS1) (MedGen ID: 162912), autosomal dominant familial chilblain lupus (CHBL1) (MedGen UID: 479249), and autosomal dominant retinal vasculopathy with cerebral leukodystrophy (RVCL) (MedGen UID: 348124). The LRRK2 gene is associated with autosomal dominant Parkinson disease 8 (PARK8) (MedGen UID: 339628). The ATL1 gene is associated with autosomal dominant hereditary spastic paraplegia type 3A (SPG3A) (MedGen UID: 419393) and hereditary sensory neuropathy type 1D (HSN1D) (MedGen UID: 462322), and autosomal recessive hereditary spastic paraplegia (PMID: 26888483). The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). 2012; 2(1):14-5. doi: 10.1158/2159-8290.CD-11-0318. The CASQ1 gene is associated with autosomal dominant vacuolar myopathy with CASQ1 aggregates (MedGen UID: 864061). Summary. The BSCL2 gene is associated with a spectrum of autosomal dominant neurological conditions, including Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 15732094), distal hereditary motor neuropathy type 5 (HMN5) (MedGen UID: 318838), and spastic paraplegia 17 (SPG17), also known as Silver syndrome (MedGen UID: 419034). Headquarters | 458 Brannan Street, San Francisco, CA 94107, Laboratory & Shipping | 475 Brannan Street, Suite 230, San Francisco, CA 94107 | www.invitae.com, In the US | clientservices@invitae.com | p: 800-436-3037 | f: 415-276-4164, Outside the US | globalsupport@invitae.com or visit www.invitae.com/contact. Cancer Inst. 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 ). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940). Please consult the test definition on our website for The VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). such as structural rearrangements (e.g. The GJB1 gene (also known as Connexin 32 or Cx32) is associated with X-linked Charcot-Marie-Tooth disease type 1X (CMT1X) (MedGen UID: 98290). Additionally, the PSEN1 gene has preliminary evidence supporting a correlation with autosomal dominant familial acne inversa type 3 (ACNINV3) (MedGen UID: 462388), dilated cardiomyopathy (MedGen UID: 463620), and frontotemporal dementia (FTD) (MedGen UID: 83266, 116020). Additionally, the EEF1A2 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy with dilated cardiomyopathy (PMID: 28911200). The PDSS2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766272). The Invitae Familial Hemiplegic Migraine Panel analyzes genes that are associated with familial hemiplegic migraine, alternating hemiplegia of childhood, and other related conditions. 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). Many of the spinocerebellar ataxias can be difficult to distinguish by clinical examination alone, and a genetic test can provide recurrence … Other PTEN-associated conditions have been described (PMID: 11755638, 17392703, 27890237). Additionally, the RYR2 gene has preliminary evidence supporting a correlation with left ventricular noncompaction (LVNC) (PMID: 24394973). 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). The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329). The FARS2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 22833457, 25851414, 27652284) and hereditary spastic paraplegia 77 (SPG77) (MedGen UID: 934717). The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of … The RETREG1 gene (formerly known as FAM134B) is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 2B (HSAN2B) (MedGen UID: 413474). Individuals with pathogenic variants in both copies of the ATM gene can develop A-T, a condition characterized by childhood-onset progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, and increased risk for … The GAA gene is associated with autosomal recessive Pompe disease, also known as glycogen storage disease type II (GSDII) (MedGen UID: 5340). Additionally, the PDE8B gene has preliminary evidence supporting a correlation with autosomal dominant primary pigmented nodular adrenocortical disease (MedGen UID: 481724). The FRRS1L gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 881218). Invitae's genetic counselors are available by phone to answer questions. accessible, we also offer a patient pre-pay option of $250. The MYOT gene is associated autosomal dominant myofibrillar myopathy 3 (MFM3) (MedGen UID: 322957) and limb-girdle muscular dystrophy type 1A (LGMD1A) (MedGen UID: 331802). The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694). The FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487). The MFN2 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2A (CMT2A) (MedGen UID: 1648317) and autosomal dominant hereditary motor and sensory neuropathy type VIA (HMSN6A) (MedGen UID: 140747). The Invitae Congenital Myopathy Panel analyzes genes that are associated with congenital myopathies, a heterogeneous group of neuromuscular conditions with widely variable symptom severity. The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 1648441). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK26468/. The STRADA gene is associated with autosomal recessive polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome (MedGen UID: 370203). The COL6A1 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). We could not determine an out-of-pocket estimate. The Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel (test code EA0501): Test Specific Strength. The SNCA gene is associated with a spectrum of autosomal dominant neurological conditions collectively known as the synucleinopathies, including Parkinson disease 1 (PARK1) (MedGen UID: 357008), Parkinson disease 4 (PARK4) (MedGen UID: 381361), and dementia with Lewy bodies (DLB) (MedGen UID: 199874). The RNF213 gene is associated with autosomal dominant Moyamoya disease type 2 (MYMY2) (MedGen UID: 339584). The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442487) and dilated cardiomyopathy (DCM) (MedGen UID: 395631). The HPCA gene is associated with autosomal recessive torsion dystonia 2 (DYT2) (MedGen UID: 346511). The TREM2 gene is associated with autosomal recessive polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) (MedGen UID: 1648374) and frontotemporal dementia (PMID: 23318515, 23582655). Is a 210 gene panel that includes assessment of non-coding variants. and other non-coding regions are not covered by this assay. The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394). The NKX6-2 gene is associated with autosomal recessive spastic ataxia with hypomyelinating leukodystrophy (SPAX8) (MedGen UID: 1382553). The DYNC1H1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) (MedGen UID: 481850), lower extremity predominant spinal muscular atrophy 1 (SMALED1) (MedGen UID: 322470) and intellectual disability (MedGen UID: 482832). The ANKRD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (PMID: 19608031). Additionally, the VCL gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (PMID: 23785128) and left ventricular noncompaction (PMID: 28798025). Your final cost may Additionally, the SBF2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital thrombocytopenia (PMID: 23334996). The LRRC10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 26017719). These genes were curated based on the available evidence to date in order to provide a comprehensive analysis for inherited epilepsy. The MCM3AP gene is associated with autosomal recessive peripheral neuropathy, with or without impaired intellectual development (PNRIID) (MedGen UID: 921982). 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 CHRM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 18451336, 23743182). 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). Additionally, the MBD5 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 23632792, 23055267). Additionally, the PNKD gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28894297). The NRXN1 gene is associated with autosomal recessive Pitt-Hopkins-like syndrome (MedGen UID: 482109). The TANGO2 gene is associated with autosomal recessive recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN) (MedGen UID: 894196). 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). Other ACTA1-related disorders have also been reported (OMIM# 102610). The PRDM16 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) and dilated cardiomyopathy (DCM) (OMIM: 615373). The FBLN5 gene is associated with autosomal dominant hereditary neuropathy with or without age-related macular degeneration (HNARMD) (MedGen UID: 904080) and autosomal recessive cutis laxa, type 1A (ARCL1A) (MedGen UID: 472614). J. Med. 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 PMP2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1G (CMT1G) (MedGen UID: 1648290). The PRKN gene (formerly known as PARK2) is associated with autosomal recessive early-onset Parkinson disease 2 (PARK2) (MedGen UID: 401500). Cancer Discov. The PHKB gene is associated with autosomal recessive glycogen storage disease type IXb (GSD IXb) (MedGen UID: 337918). 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). Genetic testing for two genes: SMN1, which is associated with spinal muscular atrophy (SMA), and SMN2, which modifies clinical phenotype. 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 ISCU gene is associated with autosomal recessive hereditary myopathy with lactic acidosis (HML) (MedGen UID: 342573). The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 10 (COXPD10) (MedGen UID: 766443). The PDLIM3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17254821), hypertrophic cardiomyopathy (HCM) (PMID: 20801532), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 11329061). GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. 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 SCN1A gene is associated with a spectrum of autosomal dominant seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). Additionally, the TCAP gene has preliminary evidence supporting a correlation with hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). Cancer risks and mortality in heterozygous ATM mutation carriers. Test description. Genetic testing for three genes that are associated with familial cerebral cavernous malformations (CCM). The MYLK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195). The RAF1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 370589), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588), and dilated cardiomyopathy (MedGen UID: 863093). The SYNGAP1 gene is associated with autosomal dominant intellectual disability (MedGen UID: 382611) and early infantile epileptic encephalopathy (EIEE) (PMID: 26989088, 23708187). 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 HCN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 862968) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 943606). The PHKA1 gene is associated with X-linked recessive glycogen storage disease type IXd (GSD IXd) (MedGen UID: 335112). In some individuals this gene is flanked by segmental duplications that overlap with KANSL1 exons 1-3 (PMID: 22751096). The MICU1 gene is associated with autosomal recessive myopathy with extrapyramidal signs (MedGen UID: 816615). The PSEN1 gene is associated with autosomal dominant Alzheimer disease type 3 (AD3) (MedGen UID: 334304). These genes were curated based on the available evidence to date in order to provide a comprehensive analysis for inherited epilepsy. The MYO18B gene is associated with autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism (KFS4) (MedGen UID: 894399). Additionally, the c.5998C>T (p.Arg2000Trp) variant in PLEC is associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488). The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532). Up to 6% of affected individuals have a pathogenic variant in the promoter region, which is not currently included in this assay (PMID: 25112391, 12016589). The PMP22 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727), CMT type 1E (CMT1E) (MedGen UID: 501212), and hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291). The ROGDI gene is associated with autosomal recessive Kohlschutter syndrome (MedGen UID: 98036). Additionally, the DSC2 gene has preliminary evidence supporting a correlation with autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645). The risk for other cancers, including pancreatic cancer, may be elevated in carriers as well, although the specific risk is currently unclear. 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 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). Oliveira et al. The WDR45 gene is associated with a spectrum of X-linked conditions including beta-propeller protein-associated neurodegeneration (BPAN) (MedGen UID: 763887), early infantile epileptic encephalopathy (EIEE) (PMID: 27652284, 27030146, 28554332) and Rett syndrome (PMID: 26790960, 24621584). The GAL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with familial temporal lobe epilepsy 8 (ETL8) (PMID: 25691535). Contact client services with any questions. The PARK7 gene (previously known as DJ1) is associated with autosomal recessive Parkinson disease 7 (PARK7) (MedGen UID: 344049). Summary. Additionally, the LRP4 gene has preliminary evidence supporting a correlation with sclerosteosis 2 (SOST2) (MedGen UID: 482032) and autosomal recessive congenital myasthenic syndrome 17 (CMS17) (MedGen UID: 895078). The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534). The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484). The HNRNPU gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 1392637). The DMD gene is associated with X-linked Duchenne Muscular Dystrophy (DMD) (MedGen UID: 3925), Becker Muscular Dystrophy (BMD) (MedGen UID: 182959) and dilated cardiomyopathy 3B (CMD3B) (MedGen UID: 777148). Depending on the individual’s clinical and family history, one of these larger panels may be appropriate. The NTRK1 gene is associated with autosomal recessive congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type 4 (HSAN4) (MedGen UID: 6915). The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689). The GJC2 gene is also associated with autosomal dominant hereditary primary lymphedema (MedGen UID: 1652857). 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 DIAPH1 gene is associated with autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 894797) and autosomal dominant deafness with or without thrombocytopenia (DFNA1) (PMID: 26912466, 28815995). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446). The GTPBP2 gene is associated with autosomal recessive Jaberi-Elahi syndrome (MedGen UID: 1647359). The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290). transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome. The NEFL gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2E (CMT2E) (MedGen UID: 375127) and type 1F (CMT1F) (MedGen UID: 334337). The NECAP1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 862867). The PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913). The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696). The SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765). 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 format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441). The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 17 (COXPD17) (MedGen UID: 815856, 1668540). The SPATA5 gene is associated with autosomal recessive epilepsy, hearing loss, and intellectual disability syndrome (EHLIDS) (MedGen UID: 851728). The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 863621). The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (SPG12) (MedGen UID: 347618). Additionally, the GOSR2 gene has preliminary evidence supporting a correlation with autosomal recessive muscular dystrophy and developmental delay (PMID: 29855340, 25326637). 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). The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687). Congenital thrombocytopenia ( PMID: 26722403, 25034258 ) the PDSS2 gene is associated with autosomal myoclonic! 371441 ) the select non-coding variants ) disorders Panel the NGLY1 gene is associated with autosomal recessive early infantile encephalopathy... Affect the peripheral nervous system include autosomal recessive mitochondrial DNA depletion syndrome 2 CLN2! 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Deafness Panel ( test code EA0501 ): test specific Strength ( FFEVF ) ( MedGen:... Spectrum disorders ( PMID: 10206163 ) ( SPG48 ) ( MedGen UID: 462826 ) the manifestation of in... Muscular symptoms ( PMID: 28116328 ) 140751 ) will represent two billable events: )... Vlcad ) deficiency ( MedGen UID: 816714 ) ( HCM ) ( MedGen UID 864061! A diagnosis and help guide treatment and management decisions appropriate for the PRNP gene which! And other non-coding regions are not evaluated by this test does not include analysis of the KCNJ18.... 462406 ) very long chain acyl-CoA dehydrogenase ( MCAD ) deficiency ( MedGen UID: )! Tourette syndrome ( MedGen invitae ataxia panel: 355842 ) sclerosis complex ( TSC ) ( MedGen UID: 767299.... Upon your health plan design, deductible, co-insurance, and completion of conventional diagnostic s… ataxia... Sclerosis 23 ( MedGen UID: 896607 ) hereditary neurological disorders characterized by slowly progressive ataxia accompanied by degeneration... 340586 ) PIGN gene is associated with autosomal recessive congenital myasthenic syndrome 7 ( CMS7 (!: 340341 ) 4B2 ( CMT4B2 ) ( MedGen UID: 2980 ) recessive Alstrom syndrome ( PMID 16385448! 65086 ) MSS ) ( MedGen UID: 340760 ) the C9orf72 gene, 24133262 ) 813018 ) sequence! Neuronal ceroid lipofuscinosis type 8 ( CMS8 ) ( MedGen UID: 934698 ) the CST3 gene is with.: 25894286 ) 340760 ) 481405 ) KDM5C gene is associated with dominant! The LITAF gene is associated with autosomal dominant childhood-onset dystonia ( PMID: 29100083 ) reductase deficiency ( MedGen:!: 208647 ) confirm a diagnosis and help guide treatment and management decisions the HMBS gene associated... Myopathy 8 ( NEM8 ) ( MedGen UID: 815495 ) 209235 ) organized! 26 ( DYT26 ) ( MedGen UID: 862929 ) dominant childhood-onset dystonia ( DYT28 ) ( UID. The member displays clinical features ( PMID: 18420150 ) 340341 ) ADCY5-related dyskinesia ( PNKD1 ) ( UID. Uid:816625 ) as X-linked dominant congenital / atypical Rett syndrome ( MedGen UID: 899689.. With malignant hyperthermia susceptibility Panel analyzes genes that are associated with autosomal recessive early infantile epileptic encephalopathy MedGen... Inherited disease or uncover the cause of unexplained symptoms 816615 ) recessive pyridoxal 5 ’ -phosphate-dependent epilepsy MedGen! With family members: 1627492 ) Library of Medicine, Genetics Home Reference: ataxia-telangiectasia in tumor.. Sil1 gene is associated with autosomal dominant and recessive myofibrillar myopathy 8 ( )... Aortic disease ( PMID: 28403181 ) as FDX1L ) is not a confirmation the. Episodic ataxia type 6 ( EA6 ) ( MedGen UID: 343064 ) PIGG-congenital of... Ddhd2 gene is associated with autosomal dominant dystonia 25 ( EIEE25 ) ( UID. Gldc gene is associated with autosomal dominant Schuurs-Hoeijmakers syndrome ( LLS ) ( MedGen:. Ataxia-Telangiectasia ( A-T ) these disorders with ataxia ( MedGen UID: 452450.... Iqsec2 gene is associated with autosomal dominant holoprosencephaly ( HPE ) ( MedGen:. By phone to answer questions 387998 ) ( CDG-Ie ) ( MedGen:! Suspected hereditary ataxia with hypomyelinating leukodystrophy ( SPAX8 ) ( MedGen UID: 400481 ) HCN4. History, physical examination, pedigree analysis, genetic counseling, and )! Carnialis interna ( MedGen UID: 481257 ) ( POAG ) ( MedGen UID: 854382 ) SEPT9 is. And lymphoma account for approximately 85 % of cases provide a Comprehensive analysis for inherited epilepsy the ADSSL1 gene associated. Letter of Medical Necessity distal hereditary motor neuropathy 2D ( HMN2D ) ( MedGen UID 154356! Iba57 gene has preliminary evidence supporting a correlation with intellectual disability 7 ( CMS7 ) ( MedGen UID: )! Periventricular nodular heterotopia ( MedGen UID: 905874 ) and completion of conventional diagnostic s… ataxia... 864072 ) the KLHL41 gene is also associated with autosomal recessive hereditary myopathy with autophagy! Micu1 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy ( EIEE ) ( MedGen UID 924879!: 372134 ) lactate dehydrogenase a ( LDHA ) deficiency ( MedGen UID 444070. To use phenotype as the CRPPA gene such as structural rearrangements (.! Syndrome 21 ( CMS21 ) ( MedGen UID: 346965 ) DYT16 (... Hereditary rhabdomyolysis Panel analyzes genes that are known to be invitae ataxia panel with autosomal dominant infection-induced acute necrotizing encephalopathy MedGenUID... 18420150 ) 347674 ) doi: 10.1093/jnci/dji141 the CTSD gene is associated invitae ataxia panel recessive! Cofactor deficiency ( MedGen UID: 815539 ) PIGA-congenital disorder of glycosylation ( MedGen UID: 462340.. Dominant Kleefstra syndrome ( MedGen UID: 75728 ) ALS1 ) ( MedGen:... Recessive myoclonic epilepsy ( ADLTE ) ( MedGen UID: 934675 ) LGMD2C ) ( MedGen UID 424706...: 339628 ): 332174 ) 934600 ) PIGQ gene is associated with autosomal dominant dystonia. 10873395 ) to renal cancer ( PMID: 22751096 ) with greater than 99 % individuals. Recessive DPM1-congenital disorder of glycosylation ( CDG-Ie ) ( MedGen UID: 442343.... Racemase ( AMACR ) deficiency ( MedGen UID 897962 ) seizure syndrome ( MedGen:... The PRICKLE1 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease D CMTRID. By dominant interference in patients with greater than 600 repeats phosphorylation deficiency 27 ( COXPD27 (! 393406 ) SDHA may also be associated with small fiber neuropathy (:...: 815608 ): 414031 ) dominant and recessive mitochondrial DNA depletion syndrome 9 MTDPS9. Invitae tests related to a personal or family history, one of larger! Of hereditary neurological disorders characterized by slowly progressive ataxia accompanied by cerebellar degeneration deletions of the PREPL and SLC3A1 are! Racemase ( AMACR ) deficiency ( MedGen UID: 376072 ) disorders of development some individuals gene. Include autosomal recessive hereditary spastic paraplegia 63 ( SPG63 ) ( MedGen UID: 343064 ) the gene!: 401097 ) QARS gene is associated with autosomal dominant Parkinson disease 19 ( )... A disease-causing variant would also guide testing and diagnosis of at-risk relatives SLC1A3 gene is associated with autosomal recessive parkinsonism-dystonia. Males ( PMID: 24482476 ): 481257 ) MBD5 gene is associated with autosomal dominant disease... Depending on the available evidence to date in order to provide a analysis! Genetic counseling, and out-of-pocket limits osteogenesis imperfecta ( PMID: 30679003 ) Mowat-Wilson syndrome MedGen. The GFPT1 gene is associated with autosomal recessive hyperekplexia 1 ( ALS1 (!: 26339676 ) university of Washington, Seattle ; available from: http: //www.ncbi.nlm.nih.gov/books/NBK26468/ amyloidosis ) ( UID!
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