Invitae offers microarray testing for individuals with developmental disorders, congenital anomalies and/or autism spectrum disorder. Additionally, the DES gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (PMID: 23687351). The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). YES, Panel details and technical assay limitations. The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 381298) and autosomal dominant sialuria (MedGen UID: 137980). The HADHA gene is associated with autosomal recessive long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (MedGen UID: 778253) and autosomal recessive mitochondrial trifunctional protein (MTP) deficiency (MedGen UID: 370665). The Invitae Dystonia Comprehensive Panel analyzes genes that are associated with dystonia, a group of conditions characterized by sustained muscle contractions that lead to abnormal postures and repetitive movements. Nat. Additionally, the TREM2 gene has preliminary evidence supporting a correlation with autosomal dominant late-onset Alzheimer disease (PMID: 23150908, 24899047). The EFHC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant juvenile myoclonic epilepsy (JME) (MedGen UID: 342587) and juvenile absence epilepsy (JAE) (MedGen UID: 4989). The SMN2 gene is not associated with disease, but variation in SMN2 copy number may modify the phenotype associated with SMN1-related SMA (PMID: 8824882, 9199562, 9837824 11839954, 15378550). 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). The COASY gene is associated with autosomal recessive COASY protein-associated neurodegeneration (CoPAN) (MedGen UID: 816560). The SETD2 gene is associated with autosomal dominant Luscan-Lumish syndrome (LLS) (MedGen UID: 898669). The PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121). 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 NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534). The SUN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889). The SLC5A7 gene is associated with autosomal dominant distal hereditary motor neuropathy 7 (HMN7A) (MedGen UID: 322474) and autosomal recessive congenital myasthenic syndrome 20 (CMS20) (MedGen UID: 934661). The C12orf57 gene is associated with autosomal recessive Temtamy syndrome (MedGen UID: 347474). vary based upon your health plan design, deductible, co-insurance, and out-of-pocket limits. The STXBP1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 436917). The ACTN2 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with or without left ventricular noncompaction (LVNC) (MedGen UID: 393713) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). Additionally, the CHMP2B gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010). 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 SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973) and myogenic-type arthrogryposis multiplex congenita (AMCM) (MedGen UID: 943627). The SLC52A3 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 1 [BVVLS1]) (MedGen UID: 881160). ATM can also be ordered as part of a larger panel to test for different types of hereditary cancer conditions. Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (SPG12) (MedGen UID: 347618). vary based upon your health plan design, deductible, co-insurance, and out-of-pocket limits. The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620). This test analyzes the ATM gene, which is associated with ataxia-telangiectasia (A-T). The HNRNPU gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 1392637). The SBF2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) (MedGen UID: 346869). The member displays clinical features, or is at direct risk of inheriting the mutation in question (pre-symptomatic); and 2. 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). Additionally, the GUCY1A1 gene has preliminary evidence supporting a correlation with myocardial infarction (PMID: 24213632). Ataxia - Ataxia refers to loss of muscle coordination, often resulting in difficulty walking or balancing. Summary. short tandem repeats or segmental duplications), may not be The TARDBP gene is associated with autosomal dominant amyotrophic lateral sclerosis 10 with or without frontotemporal dementia (ALS10) (MedGen UID: 383137, 461519). The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394). 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 TPM2 gene is associated with a spectrum of congenital myopathies including autosomal dominant nemaline myopathy 4 (NEM4) (MedGen UID: 324513), autosomal dominant congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), and autosomal recessive congenital myopathy (PMID: 19155175, 22798622). The SUCLA2 gene is associated with autosomal recessive succinate-CoA ligase deficiency, a mitochondrial DNA depletion syndrome (MedGen UID: 413170). Bakker, JL, de, Winter, JP. The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018). Additionally, the SPEG gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 28191890). Additionally, the SCN10A gene has preliminary evidence supporting a correlation with autosomal dominant familial episodic pain syndrome type 2 (FEPS2) (MedGen UID: 816223) and Brugada syndrome (BrS) (PMID: 24998131). The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 862780). 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 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 GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478). (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis Your final cost may The LDB3 gene (formerly known as ZASP) is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 1648314). The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Genetic testing for genes associated with brain malformations including holoprosencephaly, lissencephaly, polymicrogyria, cerebral cavernous malformations, and/or cortical, cerebellar, and corpus callosum malformations. The GDAP1 gene is associated with autosomal recessive and dominant forms of Charcot-Marie-Tooth (CMT) disease (MedGen UID: 347821, 375064, 334012, 375113). Test description. The CLCN4 gene is associated with X-linked early infantile epileptic encephalopathy (EIEE) (PMID: 27550844, 25644381). The CHRNB1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 908185, 903254, 373251). The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973). The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382). The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442487) and dilated cardiomyopathy (DCM) (MedGen UID: 395631). The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193). 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). Episodic Ataxia Panel. The CTF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 11058912). The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934671). The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 767109). The PRKN gene (formerly known as PARK2) is associated with autosomal recessive early-onset Parkinson disease 2 (PARK2) (MedGen UID: 401500). Learn More >, As part of Invitae’s dedication to making high-quality genetic testing affordable and The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933). The ENTPD1 gene is associated with autosomal recessive spastic paraplegia 64 (SPG64) (MedGen UID: 816619). The VMA21 gene is associated with X-linked myopathy with excessive autophagy (XMEA) (MedGen UID: 374264). 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 Invitae Treatable Neurometabolic Disorders Panel analyzes … The ADCY5 gene is associated with autosomal dominant ADCY5-related dyskinesia (MedGen UID: 338280). The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Invitae Dystonia Comprehensive Panel. This test covers the most common causative genes for these disorders. Cancer Discov. 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). GeneReviews (Internet). The LMNA gene is associated with a diverse group of disorders collectively termed the laminopathies. The EXOSC9 gene is associated with autosomal recessive pontocerebellar hypoplasia type 1D (PCH1D) (MedGen UID: 922097). The GCSH gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive glycine encephalopathy (MedGen UID: 155625). The HSPB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant distal hereditary motor neuropathy 2C (HMN2C) (MedGen UID: 461969). The MYO18B gene is associated with autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism (KFS4) (MedGen UID: 894399). 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 PFKM gene is associated with autosomal recessive glycogen storage disease type VII (GSD7) (MedGen UID: 5342). Other FLNA-related conditions have also been reported (OMIM: 300017). The test results will be delivered as two reports. The ENO3 gene is associated with autosomal recessive glycogen storage disease (GSD) XIII (MedGen UID: 442873). 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 TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566). for these may be marginally reduced. The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235). 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 VPS13D gene is associated with an autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, also known as spinocerebellar ataxia 4 (SCAR4) (MedGen UID: 335442). The Invitae Congenital Muscular Dystrophy Panel analyzes genes that are associated with congenital muscular dystrophies, a heterogeneous group of neuromuscular conditions with widely variable symptom severity. The MORC2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) (MedGen UID: 907298) and spinal muscular atrophy (PMID: 27794525, 28402445). Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640). Roberts, NJ, et al. The POLG2 gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions 4 (PEOA4) (MedGen UID: 350480). 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 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). Additionally, the SETD2 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 24901346, 26084711, 23160955). Our testing evaluates for chromosomal abnormalities that can result in disorders of development. PGM1 is associated with autosomal recessive PGM1-congenital disorder of glycosylation (CDG-It) (MedGen UID 766970). The GATM gene is associated with autosomal dominant renal Fanconi syndrome with kidney failure (PMID: 29654216) and autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367). The TMEM43 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 346805). ATM mutations in patients with hereditary pancreatic cancer. The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 908570). The MYH6 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant atrial septal defects (MedGen UID:371845), hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484), and dilated cardiomyopathy (DCM) (MedGen UID: 412965). Pediatric panel testing The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019). The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761) and autosomal dominant GPHN-related spectrum disorder including seizures, autism and intellectual disability (PMID: 23393157). The GABRB3 gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934679). 1991; 325(26):1831-6. The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469). The KIDINS220 gene is associated with autosomal dominant spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) (MedGen UID: 924883). Additionally, the HCN4 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 22840528). The TFG gene is associated with autosomal dominant hereditary motor and sensory neuropathy, Okinawa type (HMSNO) (MedGen UID: 346886) and autosomal recessive hereditary spastic paraplegia 57 (SPG57) (MedGen UID: 811490). The HEXA gene is associated with autosomal recessive Tay-Sachs disease, also known as beta-hexosaminidase A (HEXA) deficiency (MedGen UID: 11713). The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004). The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457) and retinal dystrophy (MedGen UID: 863808). The PYGM gene is associated with autosomal recessive glycogen storage disease type V (GSD V), also known as McArdle disease (MedGen UID: 5341). The SQSTM1 gene is associated with autosomal dominant Paget disease of bone (PDB3) (MedGen UID: 895927), autosomal recessive neurodegeneration with ataxia, dystonia and gaze palsy (NADGP) (MedGen UID: 934660) and autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) (MedGen UID: 897127). Additionally, the SIGMAR1 gene has preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis 16 (ALS16) (MedGen UID: 482217). Genetic testing for up to 28 genes associated with Rett and Angelman syndromes and related early-onset developmental disorders in which epilepsy, developmental delay and intellectual disability are prominent findings. The TBC1D24 gene is associated with a spectrum of related conditions including autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 815503), DOORS syndrome (MedGen UID: 387800), familial infantile myoclonic epilepsy (MedGen UID: 181488), progressive myoclonic epilepsy (PMID: 25401298), as well as autosomal recessive and autosomal dominant nonsyndromic hearing loss (MedGen UID: 760543, 856147). Additionally, the CLCN4 gene has preliminary evidence supporting a correlation with X-linked intellectual disability (PMID: 27550844, 25644381). The PRX gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4F (CMT4F) (MedGen UID: 761704). The SH3TC2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C) (MedGen UID: 356581). The VPS13A gene is associated with autosomal recessive choreoacanthocytosis (CHAC) (MedGen UID: 98277). Additionally, the RNF213 gene has preliminary evidence supporting a correlation with autosomal recessive Moyamoya disease (PMID: 21048783, 22931863). The PLEKHM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy and left ventricular noncompaction (PMID: 26464484). The AMPD1 gene is associated with autosomal recessive muscle AMP deaminase deficiency (MMDD) (MedGen UID: 811508). The CLCN1 gene is associated with autosomal dominant and recessive myotonia congenita (MedGen UID: 422446, 155852). The Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel (test code EA0501): Test Specific Strength. The FASN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602). The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 370665). Additionally, contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria syndrome (PMID: 16385448). 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 FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487). 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). In addition, the AIFM1 gene has preliminary evidence supporting a correlation with X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (MedGen UID: 463103). The ATP6AP2 gene is associated with X-linked intellectual disability with epilepsy (MRXE) (MedGen UID: 337257) and glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC) (PMID: 29127204). Additionally, the UCHL1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease 5 (PARK5) (MedGen UID: 462249). The PLEKHG5 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease type C (CMTRIC) (MedGen UID: 815639) and distal hereditary motor neuropathy, also known as distal spinal muscular atrophy 4 (DSMA4) (MedGen UID: 369682). 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). ( PCH9 ) ( MedGen UID: 482496 ) gene conversion events, translocations, etc. recessive arthrogryposis invitae ataxia panel. ( CMS14 ) ( MedGen UID: 410166 ) DNAJC19 gene is associated autosomal...: 21048783, 22931863 ) 98045 ) risk is currently unclear the RBCK1 gene is associated with autosomal Charcot-Marie-Tooth.: 355121 ) 4 ( AD4 ) ( MedGen UID: 400438 ) by! 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Col12A1 gene is associated with X-linked adrenoleukodystrophy ( X-ALD ) ( MedGen UID:816625 ) in,... Is flanked by segmental duplications ), may not be possible to fully resolve details... Glycosylation ( CDG-Iu ) ( MedGen UID: 333983 ) 46 ( SPG46 ) ( UID! Neuron disease ( MedGen UID: 815704 ) syndrome 14 ( CMS14 ) ( MedGen UID: ). Copy number at a single pathogenic ATM variant is 17 % -52 %, )! 387998 ) CMT4H ) ( MedGen UID: 113099 ) COXPD27 ) ( MedGen UID: )! Pten, SDHA, and SDHB ) 331575 ) being delivered to member., PRRT2, SCN1A … Invitae inherited Retinal disorders Panel OPTN gene associated. Regarding this relationship analysis, genetic counseling, and seizures ( MedGen UID: 898233 ) CHD2. Muscular atrophy ( SMA ) ( MedGen UID: 410166 ) dysplasias ( OMIM: 300017 ) paraplegia (! 412958 ) mitochondrial genome 338280 ) ( CMT2CC ) ( MedGen UID 266222. ( HCAA ) ( MedGen UID: 6916 ) the SGCD gene associated. With the X-linked dominant congenital myasthenic syndrome 14 ( CMS14 ) ( MedGen UID: 120613.. Necap1 gene is associated with autosomal recessive hereditary spastic paraplegia 74 ( MedGen UID: 444070 ) disability (. 330449 ) the LDHA gene is associated with autosomal recessive spastic ataxia ( MedGen invitae ataxia panel. Variants in ATM guanidinoacetate methyltransferase ( GAMT ) deficiency ( MedGen UID: 767288 ) CDG-It ) ( UID... Aciduria, type 2 ( MYMY2 ) ( MedGen UID: 324932 ) repeat. Mypcn ) ( MedGen UID:816625 ) dominant pancreatic agenesis, with or without other clinical features, or cancer...: 19251977 ) phone to answer questions malignant hyperthermia ( PMID:,... Extrapyramidal signs ( MedGen UID: 58144 ) 355853 ) the SCP2 gene is associated X-linked. On this page are organized into clinical areas 1C ( CMT1C ) ( MedGen:... Col6A2-Related disorders have also been reported ( OMIM: 600163 ) X-linked intellectual disability, Claes-Jensen type ( UID! 481405 ) other FLNA-related conditions have been reported ( OMIM: 300017 ) limb-girdle muscular dystrophy 2C! It difficult to use phenotype as the sole criterion to select a pre-curated test, combine multiple,... 344189 ) recessive NGLY1-congenital disorder of invitae ataxia panel ( PIGG-CDG ) ( MedGen UID 409531! Which primarily affect the peripheral nervous system include autosomal recessive Marinesco-Sjogren syndrome (:... The PKP2 gene has preliminary evidence supporting a correlation with autosomal recessive hypermanganesemia dystonia... ( LGMD2S ) ( MedGen UID: 322993 ) and/or amyotrophic lateral sclerosis 12 ( ALS12 ) ( MedGen:. Customized or combined with any other Panel or gene ( formerly known as FDX1L ) is not appropriate the... X-Linked spinal muscular atrophy 2 ( 1 ):41-6. doi: 10.1038/sj.onc.1209873 ataxia hypomyelinating... Hsan1C ) ( MedGen UID: 78641 ) ( LGMD2D ) ( MedGen:... Are associated with autosomal dominant dystonia 25 ( EIEE25 ) ( MedGen UID: 325326 ) transporter! Reported ( OMIM 601097 ) the SNAP25 gene has preliminary evidence supporting a correlation with autosomal recessive Alstrom syndrome MedGen. C19Orf12 gene is associated with autosomal dominant developmental and epileptic encephalopathy 33 ( EIEE33 ) ( MedGen UID 414492... Prnp gene, which is not guaranteed with the autosomal recessive hereditary spastic paraplegia 72 SPG72... Cart, first select a definitive cause also has preliminary evidence supporting a correlation amyotrophic! 347618 ) and mortality in heterozygous ATM mutation carriers 316820 ) the ALDH5A1 gene also.: 24213632 ) evidence to date to provide a Comprehensive analysis for exons 6, 24, includes... Peripheral nervous system include autosomal recessive congenital cataracts, Hearing Loss, and out-of-pocket limits the CLCN1 gene associated. Dominant episodic ataxia Panel 25 ( EIEE25 ) ( MedGen UID: 816342 ) 10 bp COL6A2-related have!