Invitae Epilepsy Panel
Test description
The Invitae Epilepsy Panel analyzes genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. These genes were curated based on the available evidence to date in order to provide analysis for epilepsy. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Genes tested
Primary panel
AARS ABAT ADAR ADSL ALDH5A1 ALDH7A1 ALG1 ALG12 ALG13 ALG6 AMACR AMT AP2M1 AP3B2 ARG1 ARHGEF9 ARSA ARX ASAH1 ASNS ATAD1 ATP1A2 ATP1A3 ATP6AP2 ATRX BRAT1 C12orf57 CACNA1A CACNA1E CACNA2D2 CAD CAMK2B CARS2 CASK CCDC88A CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLCN6 CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CLTC CNTN2 CNTNAP2 COG5 COL18A1 CSTB CTNNB1 CTSD CYFIP2 CYP27A1 DDC DDX3X DEAF1 DEPDC5 DHDDS DHFR DIAPH1 DNAJC5 DNM1 DNM1L DOCK7 DYNC1H1 DYRK1A ECHS1 EEF1A2 EHMT1 EMC1 EPM2A FAR1 FARS2 FBXO11 FGF12 FLNA FOLR1 FOXG1 FRRS1L GABBR2 GABRA1 GABRB1 GABRB2 GABRB3 GABRG2 GAMT GATAD2B GATM GCH1 GLDC GLRA1 GLRB GNAO1 GNB1 GOSR2 GPAA1 GPHN GRIA3 GRIN1 GRIN2A GRIN2B GRIN2D GTPBP3 HCN1 HDAC8 HEXA HNRNPU IER3IP1 IFIH1 IQSEC2 ITPA KANSL1 KCNA1 KCNA2 KCNB1 KCNC1 KCND2 KCNH1 KCNH2 KCNH5 KCNJ10 KCNK4 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCTD7 KIF1A KIF2A KIF5A KPNA7 LAMC3 LGI1 LIAS MBD5 MDH2 MECP2 MEF2C MFSD8 MOCS1 MOCS2 MTOR NACC1 NAGLU NECAP1 NEDD4L NEXMIF NGLY1 NHLRC1 NPC1 NPC2 NPRL3 NRXN1 NTRK2 NUS1 PACS1 PACS2 PAFAH1B1 PCDH19 PCLO PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PIGA PIGG PIGN PIGO PIGP PIGQ PIGV PIGW PLAA PLCB1 PNKD PNKP PNPO PNPT1 POLG PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PRICKLE1 PRIMA1 PRRT2 PSAP PSAT1 PSPH PTEN PTPN23 PURA QARS QDPR RAB11A RAB11B RAI1 RALA RANBP2 RELN RFT1 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNF13 ROGDI RORB RUSC2 SAMHD1 SATB2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCP2 SERPINI1 SETBP1 SGCE SGSH SIK1 SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC25A12 SLC25A22 SLC2A1 SLC35A2 SLC6A1 SLC6A5 SLC6A8 SLC9A6 SMC1A SNAP25 SNX27 SPATA5 SPTAN1 ST3GAL3 ST3GAL5 STAG2 STRADA STX1B STXBP1 STXBP2 SUMF1 SUOX SYN1 SYNGAP1 SYNJ1 SZT2 TANGO2 TBC1D24 TBCK TBL1XR1 TCF4 TH TK2 TPK1 TREX1 TSC1 TSC2 TSFM TUBB2A UBA5 UBE3A UNC80 WDR45 WWOX YWHAG ZDHHC9 ZEB2 ZSWIM6
Add-on Preliminary-evidence Genes for Epilepsy
ARHGEF15 CACNA1H CERS1 FASN GABRD GUF1 IDH3A JMJD1C LMNB2 MOCS3 PIK3AP1 PRDM8 PRICKLE2 RBFOX1 RBFOX3 SCN5A SNIP1 TUBA8
Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes that do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.
Order test
Primary panel (290 genes)
Customized gene selection (0 included, 0 excluded)
AARS ABAT ADAR ADSL ALDH5A1 ALDH7A1 ALG1 ALG12 ALG13 ALG6 AMACR AMT AP2M1 AP3B2 ARG1 ARHGEF9 ARSA ARX ASAH1 ASNS ATAD1 ATP1A2 ATP1A3 ATP6AP2 ATRX BRAT1 C12orf57 CACNA1A CACNA1E CACNA2D2 CAD CAMK2B CARS2 CASK CCDC88A CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLCN6 CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CLTC CNTN2 CNTNAP2 COG5 COL18A1 CSTB CTNNB1 CTSD CYFIP2 CYP27A1 DDC DDX3X DEAF1 DEPDC5 DHDDS DHFR DIAPH1 DNAJC5 DNM1 DNM1L DOCK7 DYNC1H1 DYRK1A ECHS1 EEF1A2 EHMT1 EMC1 EPM2A FAR1 FARS2 FBXO11 FGF12 FLNA FOLR1 FOXG1 FRRS1L GABBR2 GABRA1 GABRB1 GABRB2 GABRB3 GABRG2 GAMT GATAD2B GATM GCH1 GLDC GLRA1 GLRB GNAO1 GNB1 GOSR2 GPAA1 GPHN GRIA3 GRIN1 GRIN2A GRIN2B GRIN2D GTPBP3 HCN1 HDAC8 HEXA HNRNPU IER3IP1 IFIH1 IQSEC2 ITPA KANSL1 KCNA1 KCNA2 KCNB1 KCNC1 KCND2 KCNH1 KCNH2 KCNH5 KCNJ10 KCNK4 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCTD7 KIF1A KIF2A KIF5A KPNA7 LAMC3 LGI1 LIAS MBD5 MDH2 MECP2 MEF2C MFSD8 MOCS1 MOCS2 MTOR NACC1 NAGLU NECAP1 NEDD4L NEXMIF NGLY1 NHLRC1 NPC1 NPC2 NPRL3 NRXN1 NTRK2 NUS1 PACS1 PACS2 PAFAH1B1 PCDH19 PCLO PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PIGA PIGG PIGN PIGO PIGP PIGQ PIGV PIGW PLAA PLCB1 PNKD PNKP PNPO PNPT1 POLG PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PRICKLE1 PRIMA1 PRRT2 PSAP PSAT1 PSPH PTEN PTPN23 PURA QARS QDPR RAB11A RAB11B RAI1 RALA RANBP2 RELN RFT1 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNF13 ROGDI RORB RUSC2 SAMHD1 SATB2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCP2 SERPINI1 SETBP1 SGCE SGSH SIK1 SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC25A12 SLC25A22 SLC2A1 SLC35A2 SLC6A1 SLC6A5 SLC6A8 SLC9A6 SMC1A SNAP25 SNX27 SPATA5 SPTAN1 ST3GAL3 ST3GAL5 STAG2 STRADA STX1B STXBP1 STXBP2 SUMF1 SUOX SYN1 SYNGAP1 SYNJ1 SZT2 TANGO2 TBC1D24 TBCK TBL1XR1 TCF4 TH TK2 TPK1 TREX1 TSC1 TSC2 TSFM TUBB2A UBA5 UBE3A UNC80 WDR45 WWOX YWHAG ZDHHC9 ZEB2 ZSWIM6
Add-on Preliminary-evidence Genes for Epilepsy (18 genes)
Customized gene selection (0 included, 0 excluded)
Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes that do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.
ARHGEF15 CACNA1H CERS1 FASN GABRD GUF1 IDH3A JMJD1C LMNB2 MOCS3 PIK3AP1 PRDM8 PRICKLE2 RBFOX1 RBFOX3 SCN5A SNIP1 TUBA8
Clinical information
Disorders tested
Broad disorders tested:
- Developmental and epileptic encephalopathy (DEE)
- Developmental disorders
Individual disorders tested:
- adenylosuccinate lyase (ADSL) deficiency
- Aicardi Goutieres syndrome
- ALG1-congenital disorder of glycosylation (CDG-Ik)
- ALG12-congenital disorder of glycosylation (CDG-Ig)
- ALG13-congenital disorder of glycosylation (CDG-Is)
- ALG6-congenital disorder of glycosylation (CDG-Ic)
- alpha-methylacyl-CoA racemase (AMACR) deficiency
- Angelman syndrome, Angelman-like syndrome, Christianson, syndrome
- arginase deficiency
- ARHEF9-related conditions (hereditary hyperekplexia, developmental and epileptic encephalopathy)
- aromatic L-amino acid decarboxylase (AADC) deficiency
- arthrogryposis, cleft palate, craniosynostosis, and intellectual disability
- ARX-related conditions (developmental and epileptic encephalopathy, West syndrome, lissencephaly with ambiguous genitalia)
- asparagine synthetase (ASNS) deficiency
- CDKL5-related conditions (developmental and epileptic encephalopathy, West syndrome, atypical Rett syndrome, Angelman-like syndrome)
- cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome, alternating hemiplegia of childhood type 2
- cerebellar atrophy with seizures and variable developmental delay
- cerebellar atrophy, visual impairment, and psychomotor retardation
- cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency
- cerebral folate deficiency
- cerebrotendinous xanthomatosis
- childhood onset epilepsy
- CLCN6-related neurodevelopmental syndrome
- CNTNAP2-related conditions (cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins-like syndrome)
- COG5-congenital disorder of glycosylation (CDG-IIi)
- combined oxidative phosphorylation deficiency
- combined saposin deficiency (PSAPD), metachromatic leukodystrophy due to saposin B deficiency, atypical Gaucher disease due to saposin C deficiency
- complex cortical dysplasia with other brain malformations
- congenital disorder of glycosylation (GPAA1-CDG)
- cortical malformation syndrome
- creatine transporter deficiency
- DEAF1-related neurodevelopmental disorders
- DEPDC5-related conditions (familial focal epilepsy with variable foci, nocturnal frontal lobe epilepsy)
- developmental and epileptic encephalopathy, early infantile epileptic encephalopathy
- dopa-responsive dystonia, GTP cyclohydrolase deficiency
- encephalopathy due to defective mitochondrial and peroxisomal fission
- epilepsy
- epilepsy and autism spectrum disorder
- epilepsy with variable learning disabilities and behavior disorders
- epilepsy, hearing loss, and intellectual disability syndrome
- facial dysmorphism, hypertrichosis, epilepsy, intellectual disability and gingival overgrowth syndrome
- familial encephalopathy with neuroserpin inclusion bodies
- familial focal epilepsy with variable foci
- familial paroxysmal nonkinesigenic dyskinesia
- FBXO11-related neurodevelopmental disorder
- GABA-transaminase (GABA-T) deficiency
- GABBR2-related conditions (developmental and epileptic encephalopathy, congenital Rett syndrome)
- GABRA1-related conditions (developmental and epileptic encephalopathy, childhood absence epilepsy, juvenile myoclonic epilepsy)
- GABRG2-related conditions (childhood absence epilepsy, generalized epilepsy with febrile seizures plus, familial febrile seizures, developmental and epileptic encephalopathy)
- generalized epilepsy and paroxysmal dyskinesia
- genetic epilepsy with febrile seizures plus
- Glass syndrome
- glucose transporter type 1 deficiency syndrome
- glycine encephalopathy
- glycine encephalopathy
- glycosylphosphatidylinositol (GPI) biosynthesis defect 11
- GM3 synthase deficiency
- guanidinoacetate methyltransferase (GAMT) deficiency
- HCN1-related conditions (developmental and epileptic encephalopathy, genetic epilepsy with febrile seizures plus)
- HDAC8-related conditions (Cornelia de Lange syndrome, syndromic intellectual disability)
- hemophagocytic lymphohistiocytosis type 5
- hyperekplexia
- hyperglycinemia, lactic acidosis, and seizures, pyruvate dehydrogenase lipoic acid synthetase deficiency
- hyperphosphatasia with intellectual disability syndrome, Mabry syndrome
- hypotonia with psychomotor retardation and characteristic facies
- infantile epilepsy, cataracts, and developmental delay
- infantile hypotonia with intellectual disability and characteristic facies
- infantile spasms, intractable epilepsy & cerebellar malformation
- infection-induced acute necrotizing encephalopathy
- inosine triphosphate pyrophosphohydrolase (ITPase) deficiency
- intellectual disability
- intractable neonatal myoclonus
- KCN2-related conditions (benign familial neonatal seizures, developmental and epileptic encephalopathy)
- KCNA1-related conditions (episodic ataxia type 1, epilepsy with or without ataxic episodes, paroxysmal kinesigenic dyskinesia)
- KCNH2-related conditions (long QT syndrome type 2, and short QT syndrome)
- KCNQ3-related conditions (benign familial neonatal seizures, developmental and epileptic encephalopathy)
- KIF1A associated neurological disorder
- Kleefstra syndrome
- Knobloch syndrome
- Kohlschutter syndrome
- Koolen-de Vries syndrome
- lateral temporal lobe epilepsy
- leukoencephalopathy with dystonia and motor neuropathy
- megaloblastic anemia due to dihydrofolate reductase deficiency
- metachromatic leukodystrophy
- microcephaly with seizures and cerebral and cerebellar atrophy
- microcephaly, epilepsy, and diabetes syndrome
- mitochondrial DNA depletion syndrome
- mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
- molybdenum cofactor deficiency
- Mowat-Wilson syndrome
- mucopolysaccharidosis type IIIA , Sanfilippo syndrome A
- mucopolysaccharidosis type IIIB
- multiple sulfatase deficiency
- myoclonic epilepsy
- myoclonic epilepsy with ataxia
- myoclonic-atonic epilepsy (MAE), Doose syndrome
- neonatal-lethal rigidity and multifocal seizure syndrome
- neurodevelopmental delay and structural brain abnormalities
- neurodevelopmental disorder
- neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- neurodevelopmental disorder with craniofacial abnormalities
- neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
- neuronal ceroid lipofuscinosis
- NGLY1-congenital disorder of glycosylation (CDG-Iv)
- Niemann-Pick disease type C
- nocturnal frontal lobe epilepsy
- occipital cortical malformations
- PAFAH1B1-related conditions (lissencephaly including Miller-Dieker syndrome, isolated lissencephaly sequence, and subcortical band heterotopia)
- periventricular heterotopia
- periventricular nodular heterotopia
- peroxisomal fatty acyl-CoA reductase 1 disorder
- phosphoglycerate dehydrogenase deficiency, Neu-Laxova syndrome
- phosphoserine aminotransferase (PSAT) deficiency, Neu-Laxova syndrome type 2
- phosphoserine phosphatase deficiency
- Pierpont syndrome
- PIGA-congenital disorder of glycosylation
- PIGG-congenital disorder of glycosylation
- PIGN-congenital disorder of glycosylation
- PIGO-congenital disorder of glycosylation
- PIGQ-congenital disorder of glycosylation
- Pitt-Hopkins syndrome, Pitt-Hopkins-like syndrome
- POLG-related conditions
- polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome
- pontocerebellar hypoplasia
- progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (PEHO-like syndrome)
- progressive myoclonic epilepsy
- PRRT2-related conditions (episodic kinesigenic dyskinesia, benign familial infantile seizures, familial infantile convulsions with paroxysmal choreoathetosis)
- PTEN hamartoma tumor syndrome (PHTS), Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related autism spectrum disorder
- PURA syndrome
- pyridoxal 5’-phosphate-dependent epilepsy
- pyridoxine-dependent epilepsy
- recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration
- RELN-related conditions (lissencephaly, autosomal dominant lateral temporal lobe epilepsy)
- Rett syndrome, atypical Rett syndrome, congenital Rett syndrome
- RFT1-congenital disorder of glycosylation (CDG-In)
- Schinzel-Giedion syndrome
- SCN1A-related conditions (febrile seizures, genetic epilepsy with febrile seizures plus, Dravet syndrome, intractable childhood epilepsy with generalized tonic-clonic seizures)
- SCN1B-related conditions (generalized epilepsy with febrile seizures, developmental and epileptic encephalopathy)
- SCN2A-related conditions (benign familial neonatal-infantile seizures, developmental and epileptic encephalopathy, episodic ataxia, intellectual disability)
- seizures, cortical blindness, and microcephaly syndrome
- SeSAME syndrome
- SGCE-related conditions (myoclonic dystonia, generalized epilepsy)
- SLC25A2 -congenital disorder of glycosylation (CDG-IIm)
- SMC1A-related conditions (Cornelia de Lange syndrome, developmental and epileptic encephalopathy, holoprosencephaly)
- Smith-Kingsmore syndrome
- Smith-Magenis syndrome
- spinal muscular atrophy with progressive myoclonic epilepsy
- succinic semialdehyde dehydrogenase (SSADH) deficiency
- sulfite oxidase deficiency
- syndromic epilepsy
- Tay-Sachs disease, beta-hexosaminidase A (HEXA) deficiency
- TBC1D24-related conditions (developmental and epileptic encephalopathy, familial infantile myoclonic epilepsy, progressive myoclonic epilepsy)
- Temtamy syndrome
- tetrahydrobiopterin-deficient hyperphenylalaninemia due to quinoid dihydropteridine reductase (DHPR) deficiency
- thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type
- thiamine metabolism dysfunction syndrome, biotin-responsive basal ganglia disease
- tuberous sclerosis complex
- tyrosine hydroxylase (TH) deficiency
- Unverricht-Lundborg syndrome
- WDR45-related conditions (beta-propeller protein-associated neurodegeneration, developmental and epileptic encephalopathy, Rett syndrome)
- Zellweger spectrum disorder
- Zimmermann-Laband syndrome, Temple-Baraitser syndrome
Clinical description
To view the complete clinical description of this panel, click here.
Clinical sensitivity
The clinical sensitivity of this test is dependent on the individual’s underlying genetic condition. For many rare conditions not listed in the table, the clinical sensitivity is unknown or not well-established. See Clinical Sensitivity tab for list of the percent of disorders attributed to pathogenic variants in specific genes.
Inheritance
Inherited epilepsy conditions can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.
Assay
Assay and technical information
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
| Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
|---|---|---|---|
| AARS | NM_001605.2 | ||
| ABAT | NM_020686.5 | ||
| ADAR | NM_001111.4 | ||
| ADSL | NM_000026.2 | ||
| ALDH5A1 | NM_001080.3 | ||
| ALDH7A1 | NM_001182.4 | ||
| ALG1 | NM_019109.4 | ||
| ALG12 | NM_024105.3 | ||
| ALG13 | NM_001099922.2 | ||
| ALG6 | NM_013339.3 | ||
| AMACR | NM_014324.5 | ||
| AMT | NM_000481.3 | ||
| AP2M1 | NM_004068.3 | ||
| AP3B2 | NM_004644.4 | ||
| ARG1 | NM_000045.3 | ||
| ARHGEF15 | NM_173728.3 | ||
| ARHGEF9 | NM_015185.2; NM_001173479.1 | ||
| ARSA | NM_000487.5 | ||
| ARX* | NM_139058.2 | ||
| ASAH1 | NM_177924.3 | ||
| ASNS | NM_133436.3 | ||
| ATAD1 | NM_001321967.1 | ||
| ATP1A2 | NM_000702.3 | ||
| ATP1A3 | NM_152296.4 | ||
| ATP6AP2 | NM_005765.2 | ||
| ATRX | NM_000489.4 | ||
| BRAT1 | NM_152743.3 | ||
| C12orf57 | NM_138425.3 | ||
| CACNA1A* | NM_001127221.1 | ||
| CACNA1E | NM_000721.3 | ||
| CACNA1H | NM_021098.2 | ||
| CACNA2D2 | NM_006030.3 | ||
| CAD | NM_004341.4 | ||
| CAMK2B | NM_001220.4 | ||
| CARS2 | NM_024537.3 | ||
| CASK | NM_003688.3 | ||
| CCDC88A | NM_001135597.1 | ||
| CDKL5 | NM_003159.2 | ||
| CERS1 | NM_021267.4 | ||
| CHD2 | NM_001271.3 | ||
| CHRNA2 | NM_000742.3 | ||
| CHRNA4 | NM_000744.6 | ||
| CHRNB2 | NM_000748.2 | ||
| CLCN4 | NM_001830.3 | ||
| CLCN6 | NM_001286.3 | ||
| CLN2 (TPP1) | NM_000391.3 | ||
| CLN3 | NM_001042432.1 | ||
| CLN5 | NM_006493.2 | ||
| CLN6 | NM_017882.2 | ||
| CLN8 | NM_018941.3 | ||
| CLTC | NM_001288653.1 | ||
| CNTN2 | NM_005076.3 | ||
| CNTNAP2 | NM_014141.5 | ||
| COG5 | NM_006348.3 | ||
| COL18A1 | NM_130445.3; NM_030582.3 | ||
| CSTB* | NM_000100.3 | ||
| CTNNB1 | NM_001904.3 | ||
| CTSD | NM_001909.4 | ||
| CYFIP2 | NM_001037333.2 | ||
| CYP27A1 | NM_000784.3 | ||
| DDC* | NM_000790.3 | ||
| DDX3X* | NM_001193416.2 | ||
| DEAF1 | NM_021008.3 | ||
| DEPDC5 | NM_001242896.1 | ||
| DHDDS | NM_024887.3 | ||
| DHFR | NM_000791.3 | ||
| DIAPH1 | NM_005219.4 | ||
| DNAJC5 | NM_025219.2 | ||
| DNM1 | NM_004408.3 | ||
| DNM1L | NM_012062.4 | ||
| DOCK7 | NM_001271999.1 | ||
| DYNC1H1 | NM_001376.4 | ||
| DYRK1A | NM_001396.3 | ||
| ECHS1 | NM_004092.3 | ||
| EEF1A2 | NM_001958.3 | ||
| EHMT1 | NM_024757.4 | ||
| EMC1 | NM_015047.2 | ||
| EPM2A | NM_005670.3 | ||
| FAR1 | NM_032228.5 | ||
| FARS2 | NM_006567.3 | ||
| FASN | NM_004104.4 | ||
| FBXO11 | NM_001190274.1 | ||
| FGF12 | NM_021032.4 | ||
| FLNA | NM_001456.3 | ||
| FOLR1 | NM_016725.2 | ||
| FOXG1 | NM_005249.4 | ||
| FRRS1L | NM_014334.2 | ||
| GABBR2 | NM_005458.7 | ||
| GABRA1 | NM_000806.5 | ||
| GABRB1 | NM_000812.3 | ||
| GABRB2 | NM_021911.2 | ||
| GABRB3 | NM_000814.5 | ||
| GABRD | NM_000815.4 | ||
| GABRG2 | NM_000816.3 | ||
| GAMT | NM_000156.5 | ||
| GATAD2B | NM_020699.3 | ||
| GATM | NM_001482.2 | ||
| GCH1 | NM_000161.2 | ||
| GLDC | NM_000170.2 | ||
| GLRA1 | NM_000171.3 | ||
| GLRB | NM_000824.4 | ||
| GNAO1 | NM_020988.2 | ||
| GNB1 | NM_002074.4 | ||
| GOSR2 | NM_004287.3 | ||
| GPAA1 | NM_003801.3 | ||
| GPHN | NM_020806.4 | ||
| GRIA3 | NM_000828.4 | ||
| GRIN1 | NM_007327.3 | ||
| GRIN2A | NM_000833.4 | ||
| GRIN2B | NM_000834.3 | ||
| GRIN2D | NM_000836.2 | ||
| GTPBP3 | NM_133644.3 | ||
| GUF1 | NM_021927.2 | ||
| HCN1 | NM_021072.3 | ||
| HDAC8 | NM_018486.2 | ||
| HEXA | NM_000520.4 | ||
| HNRNPU | NM_031844.2 | ||
| IDH3A | NM_005530.2 | ||
| IER3IP1 | NM_016097.4 | ||
| IFIH1 | NM_022168.3 | ||
| IQSEC2 | NM_001111125.2 | ||
| ITPA | NM_033453.3 | ||
| JMJD1C | NM_032776.2 | ||
| KANSL1* | NM_001193466.1 | ||
| KCNA1 | NM_000217.2 | ||
| KCNA2 | NM_004974.3 | ||
| KCNB1 | NM_004975.2 | ||
| KCNC1 | NM_001112741.1 | ||
| KCND2 | NM_012281.2 | ||
| KCNH1 | NM_172362.2 | ||
| KCNH2 | NM_000238.3 | ||
| KCNH5 | NM_139318.4 | ||
| KCNJ10 | NM_002241.4 | ||
| KCNK4 | NM_001317090.1 | ||
| KCNMA1 | NM_002247.3 | ||
| KCNQ2 | NM_172107.2 | ||
| KCNQ3 | NM_004519.3 | ||
| KCNQ5 | NM_001160133.1 | ||
| KCNT1 | NM_020822.2 | ||
| KCTD7 | NM_153033.4 | ||
| KIF1A | NM_004321.6 | ||
| KIF2A | NM_001098511.2 | ||
| KIF5A | NM_004984.2 | ||
| KPNA7 | NM_001145715.1 | ||
| LAMC3 | NM_006059.3 | ||
| LGI1 | NM_005097.2 | ||
| LIAS | NM_006859.3 | ||
| LMNB2 | NM_032737.3 | ||
| MBD5 | NM_018328.4 | ||
| MDH2 | NM_005918.3 | ||
| MECP2 | NM_004992.3; NM_001110792.1 | ||
| MEF2C | NM_002397.4 | ||
| MFSD8 | NM_152778.2 | ||
| MOCS1 | NM_001075098.3 | ||
| MOCS2 | NM_176806.3; NM_004531.4 | ||
| MOCS3 | NM_014484.4 | ||
| MTOR | NM_004958.3 | ||
| NACC1 | NM_052876.3 | ||
| NAGLU | NM_000263.3 | ||
| NECAP1 | NM_015509.3 | ||
| NEDD4L | NM_015277.5 | ||
| NEXMIF | NM_001008537.2 | ||
| NGLY1 | NM_018297.3 | ||
| NHLRC1 | NM_198586.2 | ||
| NPC1 | NM_000271.4 | ||
| NPC2 | NM_006432.3 | ||
| NPRL3 | NM_001077350.2 | ||
| NRXN1 | NM_001135659.1 | ||
| NTRK2 | NM_006180.4 | ||
| NUS1 | NM_138459.3 | ||
| PACS1* | NM_018026.3 | ||
| PACS2 | NM_001100913.2 | ||
| PAFAH1B1 | NM_000430.3 | ||
| PCDH19 | NM_001184880.1 | ||
| PCLO | NM_033026.5 | ||
| PEX10 | NM_153818.1 | ||
| PEX12 | NM_000286.2 | ||
| PEX13 | NM_002618.3 | ||
| PEX14 | NM_004565.2 | ||
| PEX16 | NM_004813.2 | ||
| PEX19 | NM_002857.3 | ||
| PEX2 | NM_000318.2 | ||
| PEX26 | NM_017929.5 | ||
| PEX3 | NM_003630.2 | ||
| PEX5 | NM_001131025.1 | ||
| PEX6 | NM_000287.3 | ||
| PHGDH | NM_006623.3 | ||
| PIGA | NM_002641.3 | ||
| PIGG | NM_001127178.2 | ||
| PIGN | NM_176787.4 | ||
| PIGO | NM_032634.3 | ||
| PIGP | NM_153681.2 | ||
| PIGQ | NM_004204.3 | ||
| PIGV | NM_017837.3 | ||
| PIGW | NM_178517.3 | ||
| PIK3AP1 | NM_152309.2 | ||
| PLAA | NM_001031689.2 | ||
| PLCB1 | NM_015192.3 | ||
| PNKD | NM_015488.4 | ||
| PNKP | NM_007254.3 | ||
| PNPO | NM_018129.3 | ||
| PNPT1 | NM_033109.4 | ||
| POLG | NM_002693.2 | ||
| PPP2CA | NM_002715.2 | ||
| PPP2R1A | NM_014225.5 | ||
| PPP2R5D | NM_006245.3 | ||
| PPP3CA | NM_000944.4 | ||
| PPT1* | NM_000310.3 | ||
| PRDM8 | NM_020226.3 | ||
| PRICKLE1 | NM_153026.2 | ||
| PRICKLE2 | NM_198859.3 | ||
| PRIMA1 | NM_178013.3 | ||
| PRRT2 | NM_145239.2 | ||
| PSAP | NM_002778.3 | ||
| PSAT1 | NM_058179.3 | ||
| PSPH* | NM_004577.3 | ||
| PTEN* | NM_000314.4 | ||
| PTPN23 | NM_015466.3 | ||
| PURA | NM_005859.4 | ||
| QARS | NM_005051.2 | ||
| QDPR | NM_000320.2 | ||
| RAB11A | NM_004663.4 | ||
| RAB11B | NM_004218.3 | ||
| RAI1 | NM_030665.3 | ||
| RALA | NM_005402.3 | ||
| RANBP2* | NM_006267.4 | ||
| RBFOX1 | NM_145891.2 | ||
| RBFOX3 | NM_001082575.2 | ||
| RELN | NM_005045.3 | ||
| RFT1 | NM_052859.3 | ||
| RHOBTB2 | NM_001160036.1 | ||
| RNASEH2A | NM_006397.2 | ||
| RNASEH2B | NM_024570.3 | ||
| RNASEH2C | NM_032193.3 | ||
| RNF13* | NM_007282.4 | ||
| ROGDI | NM_024589.2 | ||
| RORB | NM_006914.3 | ||
| RUSC2 | NM_001135999.1 | ||
| SAMHD1 | NM_015474.3 | ||
| SATB2 | NM_015265.3 | ||
| SCARB2 | NM_005506.3 | ||
| SCN1A | NM_001165963.1 | ||
| SCN1B | NM_199037.3; NM_001037.4 | ||
| SCN2A | NM_021007.2 | ||
| SCN3A | NM_006922.3 | ||
| SCN5A | NM_198056.2 | ||
| SCN8A* | NM_014191.3; NM_001330260.1 | ||
| SCN9A | NM_002977.3 | ||
| SCP2 | NM_002979.4 | ||
| SERPINI1 | NM_005025.4 | ||
| SETBP1 | NM_015559.2 | ||
| SGCE | NM_003919.2 | ||
| SGSH | NM_000199.3 | ||
| SIK1* | NM_173354.3 | ||
| SLC12A5 | NM_020708.4 | ||
| SLC13A5 | NM_177550.4 | ||
| SLC19A3 | NM_025243.3 | ||
| SLC1A2 | NM_004171.3 | ||
| SLC25A12 | NM_003705.4 | ||
| SLC25A22 | NM_024698.5 | ||
| SLC2A1 | NM_006516.2 | ||
| SLC35A2 | NM_001042498.2 | ||
| SLC6A1 | NM_003042.3 | ||
| SLC6A5 | NM_004211.3 | ||
| SLC6A8 | NM_005629.3 | ||
| SLC9A6 | NM_006359.2 | ||
| SMC1A | NM_006306.3 | ||
| SNAP25 | NM_130811.2 | ||
| SNIP1 | NM_024700.3 | ||
| SNX27 | NM_030918.5 | ||
| SPATA5 | NM_145207.2 | ||
| SPTAN1 | NM_001130438.2 | ||
| ST3GAL3 | NM_006279.3 | ||
| ST3GAL5 | NM_003896.3 | ||
| STAG2 | NM_001042749.2 | ||
| STRADA | NM_001003787.2 | ||
| STX1B | NM_052874.4 | ||
| STXBP1 | NM_003165.3 | ||
| STXBP2 | NM_006949.3 | ||
| SUMF1 | NM_182760.3 | ||
| SUOX | NM_000456.2 | ||
| SYN1 | NM_133499.2 | ||
| SYNGAP1 | NM_006772.2 | ||
| SYNJ1 | NM_003895.3 | ||
| SZT2 | NM_015284.3 | ||
| TANGO2 | NM_152906.6 | ||
| TBC1D24 | NM_001199107.1 | ||
| TBCK | NM_001163435.2 | ||
| TBL1XR1 | NM_024665.4 | ||
| TCF4 | NM_001083962.1 | ||
| TH | NM_199292.2 | ||
| TK2 | NM_004614.4 | ||
| TPK1 | NM_022445.3 | ||
| TREX1 | NM_033629.4 | ||
| TSC1* | NM_000368.4 | ||
| TSC2 | NM_000548.3 | ||
| TSFM* | NM_001172696.1 | ||
| TUBA8 | NM_018943.2 | ||
| TUBB2A* | NM_001069.2 | ||
| UBA5 | NM_024818.4 | ||
| UBE3A* | NM_130838.1 | ||
| UNC80 | NM_032504.1 | ||
| WDR45 | NM_007075.3 | ||
| WWOX | NM_016373.3 | ||
| YWHAG | NM_012479.3 | ||
| ZDHHC9 | NM_016032.3 | ||
| ZEB2 | NM_014795.3 | ||
| ZSWIM6 | NM_020928.1 |
ARX: Analysis is validated to detect polyalanine expansions but sensitivity may be reduced.
CACNA1A: Trinucleotide repeat expansions are not determined on this assay.
CSTB: Dodecamer repeat numbers in the 5' UTR are not determined.
DDC: Deletion/duplication analysis is not offered for exons 10-11.
DDX3X: Sequencing analysis is not offered for exon 3.
KANSL1: Deletion/duplication analysis is not offered for exons 2-3.
PACS1: c.607C>T variant only.
PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.
PSPH: Deletion/duplication and sequencing analysis is not offered for exons 4-5.
PTEN: Deletion/duplication analysis covers the promoter region. Sequencing analysis for exons 8 includes only cds +/- 10 bp.
RANBP2: Deletion/duplication and sequencing analysis is not offered for exons 1-11, 15-29.
RNF13: Sequencing analysis is not offered for exon 4.
SCN8A: Analysis includes exon 6 of NM_001330260.1.
SIK1: Deletion/duplication analysis is not offered for exons 13-14.
TSC1: Sequencing analysis for exons 21 includes only cds +/- 10 bp.
TSFM: Sequencing analysis is not offered for exon 5.
TUBB2A: Deletion/duplication and sequencing analysis is not offered for exon 2.
UBE3A: Analysis includes sequencing and deletion/duplication analysis but does not detect uniparental disomy or imprinting center defects.
