The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484). Additionally, the EXOSC3 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 23975261, 25149867). Additionally, the SPEG gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 28191890). The SLC30A10 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 412958). The GSN gene is associated with autosomal dominant amyloidosis, Finnish type (MedGen UID: 301243). 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). Swift, M, et al. The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687). The ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067). 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). Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458) caused by trinucleotide repeat expansion. The SCN3A gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1631233) and childhood onset epilepsy (MedGen UID: 910257). The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). The SMCHD1 gene is associated with digenic inheritance of facioscapulohumeral muscular dystrophy 2 (FSHD2) (MedGen UID: 320405) with D4Z4 hypomethylation (permissive 4qA allele), and autosomal dominant Bosma arhinia microphthalmia syndrome (BAMS) (MedGen UID: 355084). The PRIMA1 gene is associated with autosomal recessive nocturnal frontal lobe epilepsy (PMID: 26339676). The SBF2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) (MedGen UID: 346869). The SPG11 gene is associated with autosomal recessive hereditary spastic paraplegia 11 (SPG11) (MedGen UID: 388073), juvenile amyotrophic lateral sclerosis 5 (ALS5) (MedGen UID: 356388) and Charcot-Marie-Tooth disease type 2X (CMT2X) (MedGen UID: 895625). The Ataxia Xpanded Panel uses a trio approach that includes concurrent analysis of the affected proband and both parents, which increases the likelihood of identifying a definitive genetic explanation for ataxia in an individual. Studies suggest SDHA may also be associated with autosomal dominant susceptibility to renal cancer (PMID: 26722403, 25034258). The KIDINS220 gene is associated with autosomal dominant spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) (MedGen UID: 924883). The SNAP25 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 26795593, 25003006, 29100083). Additionally, the NUS1 gene has preliminary evidence supporting a correlation with autosomal recessive NUS1-related congenital disorder of glycosylation (NUS1-CDG) (PMID: 25066056). The HNRNPA2B1 gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease, with or without frontotemporal dementia 2 (IBMPFD2) (MedGen UID: 815798). 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 KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome (PMID: 24694336), neuroblastoma (PMID: 18614535, 18334619, 24469107), and Charcot-Marie-Tooth disease (CMT) (PMID: 30373780). The LDHA gene is associated with autosomal recessive lactate dehydrogenase A (LDHA) deficiency (MedGen UID: 416688). The HACE1 gene is associated with autosomal recessive spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) (MedGen UID: 897828). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 4 (EDMD4) (MedGen UID: 414476) and dilated cardiomyopathy (PMID: 19944109, 17761684). 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). Smaller panels of its components are also available. Other L1CAM-related conditions have been reported (OMIM: 308840). The SPG7 gene is associated with autosomal recessive hereditary spastic paraplegia 7 (SPG7) (MedGen UID: 339552). information you entered about your health insurance coverage. 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). In addition, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (MedGen UID: 393399). 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). © Invitae Corporation. The ALDH18A1 gene is also associated with autosomal recessive delta-pyrroline-5-carboxylate synthetase (P5CS) deficiency (PMID: 11092761). The WWOX gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 863956) and spinocerebellar ataxia 12 (SCAR12) (MedGen UID: 482082). The QARS gene is associated with autosomal recessive progressive microcephaly with seizures and cerebral and cerebellar atrophy (MedGen UID: 862676). The ZFYVE27 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 33 (SPG33) (MedGen UID: 339943). The TPM3 gene is associated with autosomal dominant and recessive nemaline myopathy 1 (NEM1) (MedGen UID: 373089) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177). The SLC2A1 gene is associated with a spectrum of overlapping autosomal dominant and recessive conditions which fall under the umbrella term of glucose transporter type 1 deficiency syndrome (Glut1 DS) (MedGen UID: 1645412). The GABRA1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345). The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase (CACT) deficiency (MedGen UID: 91000). The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with hemorrhage (BSVD) (MedGen UID: 861472), porencephaly (MedGen UID: 1647320), hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), and tortuosity of retinal arteries (RATOR) (MedGen UID: 356748). The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782) and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313). 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 Additionally, the SCN8A gene has preliminary evidence supporting a correlation with autosomal dominant dystonia and related disorders (PMID: 29726066, 29356177). Additionally, the SPR gene has preliminary evidence supporting a correlation with autosomal dominant dopa-responsive dystonia (PMID: 15241655). It is not a confirmation Other features include premature aging and endocrine abnormalities. Oliveira et al. The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA). 2012; 2(1):14-5. doi: 10.1158/2159-8290.CD-11-0318. The SYNGAP1 gene is associated with autosomal dominant intellectual disability (MedGen UID: 382611) and early infantile epileptic encephalopathy (EIEE) (PMID: 26989088, 23708187). 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). 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). 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 RAPSN gene is associated with autosomal recessive congenital myasthenic syndrome 11 (CMS11) (MedGen UID: 902189) and fetal akinesia deformation sequence 2 (FADS2) (MedGen UID: 941315). The TAZ gene is associated with X-linked recessive Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893). Sci. The PLCB1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462338). The VAPB gene is associated with autosomal dominant amyotrophic lateral sclerosis 8 (ALS8) (MedGen UID: 325237) and late-onset spinal muscular atrophy, Finkel type (SMAFK) (MedGen UID: 357133). phasing, or mapping ambiguity. The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153). The data, however, are preliminary and insufficient to make a determination regarding this relationship. Genetic testing for 2 genes that cause myotonia and paramyotonia congenita. The GABBR2 gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1511313) and Rett syndrome (PMID: 28856709). Additionally, the MBD5 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 23632792, 23055267). The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293) and short QT syndrome (SQTS) (MedGen UID: 355891). The RNF213 gene is associated with autosomal dominant Moyamoya disease type 2 (MYMY2) (MedGen UID: 339584). The SYNE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 5 (EDMD5) (MedGen UID: 414111). Any of these larger panels can be ordered for no additional charge. that the test has been authorized by your insurance provider. A-T is inherited in an autosomal recessive pattern. The FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790). Nat. Additionally, the SETX gene has preliminary evidence supporting a correlation with Charcot-Marie-Tooth disease (PMID: 25025039). The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID: 78750). Our testing evaluates for chromosomal abnormalities that can result in disorders of development. The SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765). The CRYAB gene is associated with autosomal dominant and recessive cataracts (MedGen UID: 814707). The NGLY1 gene is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321). The KCNB1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 26 (MedGen UID: 863556). The CHAT gene is associated with autosomal recessive congenital myasthenic syndrome 6 (CMS6) (MedGen UID: 140751). The LAS1L gene is associated with X-linked Wilson-Turner intellectual disability syndrome (MedGen UID: 333393). The CCT5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary sensory neuropathy with spastic paraplegia (MedGen UID: 342492). 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 ERBB4 gene has preliminary evidence supporting a correlation with chronic kidney disease (PMID: 25893603) and isolated hypogonadotropic hypogonadism (PMID: 30098700). The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634). The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629). The GABRD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to genetic epilepsy with febrile seizures plus (GEFSP), idiopathic generalized epilepsy (EIG), susceptibility to juvenile myoclonic epilepsy (EJM) (PMID: 15115768, 16023832), and Rett syndrome (PMID 25156961). The LRSAM1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2P (CMT2P) (MedGen UID: 482427). A13 ( MDDGA13 ) ( MedGen UID: 347674 ) aortic disease ( MedGen UID: 413044 ) (... Cerebral amyloid angiopathy ( MedGen UID: 395226 ) myopathy 9 ( )! Recessive Basel-Vanagaite-Smirin-Yosef syndrome ( MedGen UID: 340760 ) 26 ( SPG26 ) ( MedGen UID: 413044.. The KCNC1 gene is associated with autosomal recessive PGM1-congenital disorder of glycosylation ( PIGG-CDG ) ( PMID:,! 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