The TGIF1 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 374488). The evidence, however, is insufficient to make a determination regarding these relationships. 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 SH3TC2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C) (MedGen UID: 356581). 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), Saliva, assisted saliva, buccal swab and gDNA, New York Approved: The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521) and congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497). The ANO5 gene is associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive CMT2P (MedGen UID: 482427). The SUCLG1 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 9 (MTDPS9) (MedGen UID: 462826). The SIK1 gene is associated with autosomal dominant early infantile epileptic encephalopathy 30 (EIEE30) (MedGen UID: 898954). 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). The PRX gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4F (CMT4F) (MedGen UID: 761704). The Invitae Limb-Girdle Muscular Dystrophy Panel analyzes genes that are associated with limb-girdle muscular dystrophy (LGMD), a heterogeneous group of conditions characterized by muscle weakness and wasting primarily affecting the limb-girdle musculature. Incidence of cancer in 161 families affected by ataxia-telangiectasia. The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752) and syndromic intellectual disability (ID) (PMID: 22889856, 29519750). Additionally, the SZT2 gene has preliminary evidence supporting a correlation with autosomal recessive intellectual disability (PMID: 24324832). The GUCY1A1 gene (formerly known as GUCY1A3) is associated with autosomal recessive Moyamoya disease type 6 (MYMY6) (MedGen UID: 816733). The PGK1 gene is associated with X-linked phosphoglycerate kinase 1 (PGK1) deficiency (MedGen UID: 410166). This test includes 11 repeat expansion tests, 33 genes sequenced, and ATM deletion test that identifies mutations and repeat expansions associated with all types of hereditary ataxias. The KCND2 gene is associated with autosomal dominant epilepsy and autism spectrum disorder (PMID: 24501278, Invitae). The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329). Aetna considers genetic testing medically necessary to establish a molecular diagnosis of an inheritable disease when allof the following are met: 1. Other features include premature aging and endocrine abnormalities. The PDSS2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766272). Additionally, the DES gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (PMID: 23687351). Learn More >. 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 KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243). and will represent two billable events. The SLC30A10 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 412958). The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484). 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 HEXA gene is associated with autosomal recessive Tay-Sachs disease, also known as beta-hexosaminidase A (HEXA) deficiency (MedGen UID: 11713). The ARL6IP1 gene is associated with autosomal recessive hereditary spastic paraplegia 61 (SPG61) (MedGen UID: 816624). GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. 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 SPG21 gene (also known as ACP33), is associated with autosomal recessive hereditary spastic paraplegia 21 (SPG21), also known as Mast syndrome (MedGen UID: 343325). Oliveira et al. 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 CACNA2D2 gene is associated with autosomal recessive cerebellar atrophy with seizures and variable developmental delay (CASVDD) (MedGen UID: 944061). Additionally, the C19orf12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531). J. Natl. The PINK1 gene is associated with autosomal recessive early-onset Parkinson disease 6 (PARK6) (MedGen UID: 342982). 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 ALG14 gene is associated with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 864033) and ALG14-congenital disorder of glycosylation (ALG14-CDG) (PMID: 28733338). Genetic testing for two genes known to be associated with Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome, which is characterized by distinctive craniofacial features and intellectual disability. Additionally, the RYR2 gene has preliminary evidence supporting a correlation with left ventricular noncompaction (LVNC) (PMID: 24394973). These genes include the most common causes of autosomal dominant, autosomal recessive, and X-linked HSP. 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 OPA3 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type III (formerly known as Costeff syndrome) (MedGen UID: 108273) and autosomal dominant optic atrophy and cataract (MedGen UID: 371657). Additionally, the HARS gene has preliminary evidence supporting a correlation with Usher syndrome (PMID: 27353947, 22930593). The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD1) (MedGen UID: 1631383). The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426). 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). After history, physical examination, pedigree analysis, genetic counseling, and completion of conventional diagnostic s… Other L1CAM-related conditions have been reported (OMIM: 308840). The BIN1 gene is associated with autosomal dominant and recessive centronuclear myopathy (MedGen UID: 98049). 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). (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis 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 ZFR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia (PMID: 24482476). Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, 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 EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1) (MedGen UID: 148284). The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 863889) and autosomal recessive glycogen storage disease XV (GSD XV) (MedGen UID: 462104, PMID: 25272951). Read more about genetic testing available for diagnostics of spinocerebellar ataxia. The PLP1 gene is associated with a spectrum of X-linked conditions, ranging from X-linked hereditary spastic paraplegia 2 (SPG2) (MedGen UID: 374177) to Pelizaeus-Merzbacher disease (PMD) (MedGen UID: 61440). The SLC25A46 gene is associated with autosomal recessive hereditary motor and sensory neuropathy type VIB (HMSN6B) (MedGen UID: 895482) and pontocerebellar hypoplasia (PMID: 28653766, 27543974). The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly an increased risk for familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). The GRIN2A gene is associated with a spectrum of autosomal dominant epileptic encephalopathies, typically presenting as one of the epilepsy-aphasia syndromes (EAS) (MedGen UID: 322043). In very rare cases, (circulating hematolymphoid neoplasm, bone marrow This test may be useful for suspected hereditary ataxia with unavailable or inconclusive family history. The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784). The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Cowchock syndrome (MedGen UID: 162891), X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350) and X-linked deafness-5 (MedGen UID: 335096). However, in rare situations, single-exon copy number events may not be The SERPINI1 gene is associated with autosomal dominant familial encephalopathy with neuroserpin inclusion bodies (FENIB) (MedGen UID: 346965). 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 phasing, or mapping ambiguity. Invitae Breast Cancer STAT Panel can be ordered with 7 high risk genes - BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53 - with the option to add on ATM and/or CHEK2. The DDC gene is associated with autosomal recessive aromatic L-amino acid decarboxylase (AADC) deficiency (MedGen UID: 220945). Test Details. The ANG gene is associated with autosomal dominant amyotrophic lateral sclerosis type 9 (ALS9) (MedGen UID: 395629). The DNAJC6 gene is associated with autosomal recessive juvenile-onset Parkinson disease 19 (PARK19) (MedGen UID: 816141). The SMC1A gene is associated with X-linked dominant Cornelia de Lange syndrome (MedGen UID: 315658), early infantile epileptic encephalopathy (EIEE) (PMID: 26386245, 27334371, 26358754) and holoprosencephaly (HPE) (PMID: 28166369, 31334757). The SEPT9 gene is associated with autosomal dominant hereditary neuralgic amyotrophy (MedGen UID: 320318). 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 ACTB gene has preliminary evidence supporting a correlation with an autosomal dominant syndrome involving intellectual disability, behavioral and skeletal abnormalities, and microcephaly (PMID: 29220674, 31898838). Swift, M, et al. Additionally, the SIGMAR1 gene has preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis 16 (ALS16) (MedGen UID: 482217). It is also associated with autosomal recessive GTP cyclohydrolase deficiency (MedGen UID: 75683). Additionally, the PGAP1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476). The genes on the panel have been carefully selected based on scientific literature, mutation databases and … The COQ8A gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 436985). The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 863797). The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625). The Invitae Hereditary Parkinson Disease and Parkinsonism Panel analyzes genes that are associated with Parkinson disease and related conditions involving parkinsonian features. Learn More >. Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458) caused by trinucleotide repeat expansion. Cancer risks and mortality in heterozygous ATM mutation carriers. The CPT1A gene is associated with autosomal recessive carnitine palmitoyltransferase I (CPT1) deficiency (MedGen UID: 316820). 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 OPA1 gene is associated with autosomal dominant hereditary optic atrophy (OPA) (MedGen UID: 137902), optic atrophy plus syndrome (DOA+) (MedGen UID: 478179), autosomal dominant mitochondrial DNA deletion syndrome, and autosomal recessive Behr syndrome (MedGen UID: 66358). The DOCK7 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) 23 (MedGen UID: 862929). This test includes 10 repeat expansion tests and 16 genes sequenced that identifies mutations and repeat expansions associated with autosomal dominant forms of ataxia. The SLC6A1 gene is associated with autosomal dominant myoclonic-atonic epilepsy (MAE) (MedGen UID: 905978). The WWOX gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 863956) and spinocerebellar ataxia 12 (SCAR12) (MedGen UID: 482082). It is also associated with autosomal recessive congenital myopathy (PMID: 26700687) and there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 16 (CMS16) (MedGen UID: 481742). Invitae Comprehensive Neuromuscular Disorders Panel analyzes genes that are associated with hereditary neuromuscular conditions, including but not limited to muscular dystrophies, inherited myopathies, and congenital myasthenic syndromes. Detection of variants in the neuronal isoform dystonin-a2 transcript (NM_001144769) is not guaranteed with the current assay (PMID: 32042917). 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). details regarding regions or types of variants that are covered or excluded for this test. The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295). The SLC12A5 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 899149). The FLAD1 gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency due to flavin adenine dinucleotide synthetase deficiency (MedGen UID: 934789). The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 468441), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. The EEF1A2 gene is associated with autosomal dominant early infantile epileptic encephalopathy 33 (EIEE33) (MedGen UID: 897930). The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). 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 YARS gene is associated with dominant intermediate Charcot-Marie-Tooth disease type C (CMTDIC) (MedGen UID: 334023) and autosomal recessive YARS-related multi-systemic syndrome (PMID: 30304524). It is not a confirmation Additionally, the ATP6AP2 gene has preliminary evidence supporting a correlation with X-linked Parkinsonism with spasticity (PMID: 23595882, 26467484) and an infantile neurodegenerative condition (PMID: 30985297). 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). Pch9 ) ( MedGen UID: 340341 ) syndrome 22 ( CMS22 ) MedGen... During and after pregnancy 300017 ) any of these genes were curated based on the report ( CMTX6 ) PMID... Eya4 gene is associated with autosomal recessive arthrogryposis, intellectual disability 7 NEM7! 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Type 2B ( CMT2B ) ( MedGen UID: 436917 ) and/or amyotrophic lateral sclerosis 23 MedGen!

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