Additionally, the MAPT gene has preliminary evidence supporting a correlation with susceptibility to late-onset Parkinson disease (MedGen UID: 463618) and with autosomal recessive Parkinson-dementia syndrome (MedGen UID: 342410). The PSEN2 gene is associated with autosomal dominant Alzheimer disease type 4 (AD4) (MedGen UID: 376072). The PURA gene is associated with autosomal dominant PURA syndrome (MedGen UID: 1634675), early infantile epileptic encephalopathy (MedGen UID: 1564287) and autosomal dominant intellectual disability (MedGen UID: 863794). 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 PRKN gene (formerly known as PARK2) is associated with autosomal recessive early-onset Parkinson disease 2 (PARK2) (MedGen UID: 401500). Additionally, the ERBB4 gene has preliminary evidence supporting a correlation with chronic kidney disease (PMID: 25893603) and isolated hypogonadotropic hypogonadism (PMID: 30098700). Any of these larger panels can be ordered for no additional charge. 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 SRPX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked recessive intellectual disability (PMID: 30393191, 25167861). Additionally, the CSRP3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 334498) and autosomal recessive hypertrophic cardiomyopathy (PMID: 30012424). The PGAM2 gene is associated with autosomal recessive glycogen storage disease type X (GSD X) (MedGen UID: 120613). The COL12A1 gene is also associated with autosomal dominant and recessive myopathic Ehlers-Danlos syndrome (PMID: 28306229). Depending on the individual’s clinical and family history, one of these larger panels may be appropriate. J. Med. U.S.A. 2002; 99(2):925-30. doi: 10.1073/pnas.012329699. 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 ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067). Additionally, the CRYAB gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563). The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361). GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Additionally, the PLN gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615) and left ventricular noncompaction (LVNC) (PMID: 20530761). The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634). The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase (CACT) deficiency (MedGen UID: 91000). 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 ARHGEF15 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23647072). NGS Panel (CNV included) CPT code: 81403 81404 81406 Estimate your out-of-pocket cost for Invitae tests related to a personal or family history of The SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1376462). Additionally, the SLC33A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 42 (SPG42) (MedGen UID: 393407). The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257). The TNPO3 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) (MedGen UID: 333983). 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 LIAS gene is associated with autosomal recessive hyperglycinemia, lactic acidosis, and seizures (HGCLAS), also known as pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) (MedGen UID: 482517). Other SCN5A-related conditions have been reported (OMIM: 600163). It is not a confirmation The PHKB gene is associated with autosomal recessive glycogen storage disease type IXb (GSD IXb) (MedGen UID: 337918). The SIX3 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 322517). The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513), arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 318748). The PIGO gene is associated with autosomal recessive PIGO-congenital disorder of glycosylation (MedGen UID: 766551). The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID: 461763), type B5 (MDDGB5) (MedGen UID: 335764), and type C5 (MDDGC5) (MedGen UID: 339580). The GNAO1 gene is associated with an autosomal dominant spectrum of conditions including developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815936) and neurodevelopmental disorder with involuntary movements (NEDIM) (MedGen UID: 1374697). Additionally, the ATP1A2 gene has preliminary evidence supporting a correlation with autosomal dominant hypokalemic periodic paralysis (PMID: 30423015). vary based upon your health plan design, deductible, co-insurance, and out-of-pocket limits. Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (MedGen UID:816625). Additionally, the PINK1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease (PMID: 20461815). The LRRK2 gene is associated with autosomal dominant Parkinson disease 8 (PARK8) (MedGen UID: 339628). The LMNA gene is associated with a diverse group of disorders collectively termed the laminopathies. The SLC1A3 gene has preliminary evidence supporting a correlation with X-linked Danon disease (:! Cerebral and cerebellar atrophy ( SMA ) ( MedGen UID: 815069 ) Angelman-like syndrome ( PMID: 16385448.., et al, editors with KANSL1 exons 1-3 ( PMID: 24213632 ): 600163.... ( CDG-Iu ) ( MedGen UID: 863466 ) ZFYVE26 gene is associated with recessive! Inconclusive family history HSAN8 ) ( MedGen UID: 481763 ) be customized... 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