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 a comprehensive analysis for inherited epilepsy. Given the clinical overlap of different epilepsy conditions, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. 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 and provide information for recurrence-risk estimation and genetic counseling.
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.
SCN8A: Analysis includes exon 6 of NM_001330260.1.
UBE3A: Analysis includes sequencing and deletion/duplication analysis but does not detect uniparental disomy or imprinting center defects.
Genes tested
Primary panel
AARS ABAT ADAR ADSL ALDH5A1 ALDH7A1 ALG1 ALG12 ALG13 ALG6 AMACR AMT AP2M1 AP3B2 ARG1 ARHGEF15 ARHGEF9 ARSA ARX ASAH1 ASNS ATAD1 ATP1A2 ATP1A3 ATP6AP2 ATRX BRAT1 C12orf57 CACNA1A CACNA1E CACNA1H CACNA2D2 CAD CAMK2B CARS2 CASK CCDC88A CDKL5 CERS1 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 FASN FBXO11 FGF12 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 GUF1 HCN1 HEXA HNRNPU HTT IDH3A 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 LMNB2 MBD5 MDH2 MECP2 MEF2C MFSD8 MOCS1 MOCS2 MOCS3 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 PIK3AP1 PLAA PLCB1 PNKD PNKP PNPO PNPT1 POLG PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PRDM8 PRICKLE1 PRICKLE2 PRIMA1 PRRT2 PSAP PSAT1 PSPH PTPN23 PURA QARS QDPR RAB11A RAB11B RAI1 RALA RANBP2 RBFOX1 RBFOX3 RELN RFT1 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNF13 ROGDI RORB RUSC2 SAMHD1 SATB2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SCP2 SERPINI1 SETBP1 SGCE SGSH SIK1 SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC25A12 SLC25A22 SLC2A1 SLC35A2 SLC6A1 SLC6A5 SLC6A8 SLC9A6 SMC1A SNAP25 SNIP1 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 TUBA8 TUBB2A UBA5 UBE3A UNC80 WDR45 WWOX YWHAG ZDHHC9 ZEB2 ZSWIM6
Add-on FLNA Gene
FLNA
In addition to the primary Epilepsy panel, clinicians can choose to include the FLNA gene that is associated with disorders that are broadly categorized as neuronal migration disorders and otopalatodigital spectrum disorders. Periventricular nodular heterotopia is a neuronal migration disorder characterized by seizures and nodules lining the edges of the lateral cerebral ventricles, along with variable presence of persistent patent ductus arteriosus, coagulopathy, connective tissue and vascular anomalies, and/or gastrointestinal dysmotility (PMID: 15917206, 19917821). Periventricular nodular heterotopia predominantly affects females due to the severity of this condition in males (PMID: 15917206). If clinically indicated, this gene can be added at no additional charge.
Add-on PTEN Gene
PTEN
In addition to the primary Epilepsy panel, clinicians can choose to include the PTEN gene that is associated with PTEN-related autism spectrum disorder (ASD), with or without macrocephaly. ASDs are characterized by impairments in social interactions and communication, developmental delays, and restricted and/or repetitive behaviors. Autism is often associated with other neurological conditions including epilepsy (PMID: 20510557, 24580998). If clinically indicated, this gene can be added at no additional charge.
Order test
Primary panel (304 genes)
Customized gene selection (0 included, 0 excluded)
AARS ABAT ADAR ADSL ALDH5A1 ALDH7A1 ALG1 ALG12 ALG13 ALG6 AMACR AMT AP2M1 AP3B2 ARG1 ARHGEF15 ARHGEF9 ARSA ARX ASAH1 ASNS ATAD1 ATP1A2 ATP1A3 ATP6AP2 ATRX BRAT1 C12orf57 CACNA1A CACNA1E CACNA1H CACNA2D2 CAD CAMK2B CARS2 CASK CCDC88A CDKL5 CERS1 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 FASN FBXO11 FGF12 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 GUF1 HCN1 HEXA HNRNPU HTT IDH3A 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 LMNB2 MBD5 MDH2 MECP2 MEF2C MFSD8 MOCS1 MOCS2 MOCS3 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 PIK3AP1 PLAA PLCB1 PNKD PNKP PNPO PNPT1 POLG PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PRDM8 PRICKLE1 PRICKLE2 PRIMA1 PRRT2 PSAP PSAT1 PSPH PTPN23 PURA QARS QDPR RAB11A RAB11B RAI1 RALA RANBP2 RBFOX1 RBFOX3 RELN RFT1 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNF13 ROGDI RORB RUSC2 SAMHD1 SATB2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SCP2 SERPINI1 SETBP1 SGCE SGSH SIK1 SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC25A12 SLC25A22 SLC2A1 SLC35A2 SLC6A1 SLC6A5 SLC6A8 SLC9A6 SMC1A SNAP25 SNIP1 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 TUBA8 TUBB2A UBA5 UBE3A UNC80 WDR45 WWOX YWHAG ZDHHC9 ZEB2 ZSWIM6
Add-on FLNA Gene (1 gene)
Customized gene selection (0 included, 0 excluded)
In addition to the primary Epilepsy panel, clinicians can choose to include the FLNA gene that is associated with disorders that are broadly categorized as neuronal migration disorders and otopalatodigital spectrum disorders. Periventricular nodular heterotopia is a neuronal migration disorder characterized by seizures and nodules lining the edges of the lateral cerebral ventricles, along with variable presence of persistent patent ductus arteriosus, coagulopathy, connective tissue and vascular anomalies, and/or gastrointestinal dysmotility (PMID: 15917206, 19917821). Periventricular nodular heterotopia predominantly affects females due to the severity of this condition in males (PMID: 15917206). If clinically indicated, this gene can be added at no additional charge.
FLNA
Add-on PTEN Gene (1 gene)
Customized gene selection (0 included, 0 excluded)
In addition to the primary Epilepsy panel, clinicians can choose to include the PTEN gene that is associated with PTEN-related autism spectrum disorder (ASD), with or without macrocephaly. ASDs are characterized by impairments in social interactions and communication, developmental delays, and restricted and/or repetitive behaviors. Autism is often associated with other neurological conditions including epilepsy (PMID: 20510557, 24580998). If clinically indicated, this gene can be added at no additional charge.
PTEN
Clinical information
Disorders tested
Broad disorders tested:
- Early infantile epileptic encephalopathy
- Developmental Disorders
- Nocturnal Frontal Lobe Epilepsy
- Familial focal epilepsy with variable foci (FFEVF)
- Glycine Encephalopathy
- Congenital disorder of glycosylation (CDG)
- Neuronal ceroid lipofuscinoses (NCL)
Individual disorders tested:
- Adenylosuccinate lyase (ADSL) deficiency
- Aicardi Goutieres syndrome (AGS)
- Alpha-methylacyl-CoA racemase (AMACR) deficiency
- Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome
- Alternating hemiplegia of childhood
- Angelman syndrome
- Angelman-like syndrome
- Arginase deficiency
- Arginine:glycine amidinotransferase (AGAT) deficiency
- Aromatic L-amino acid decarboxylase (AADC) deficiency
- Arthrogryposis, cleft palate, craniosynostosis, and intellectual disability
- Arthrogryposis, intellectual disability, and seizures
- Asparagine synthetase (ASNS) deficiency
- Atypical Rett syndrome
- Benign familial neonatal seizures (BFNS)
- Benign familial neonatal-infantile seizures (BFNIS)
- Cerebellar atrophy with seizures and variable developmental delay (CASVDD)
- Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR)
- Cerebral folate deficiency
- Cerebrotendinous xanthomatosis (CTX)
- Childhood absence epilepsy (CAE)
- Christianson syndrome, also known as X-linked dominant Angelman-like syndrome
- Combined oxidative phosphorylation deficiency (COXPD)
- Combined saposin deficiency (PSAPD)
- Complex cortical dysplasia with other brain malformations
- Congenital / atypical Rett syndrome
- Congenital disorder of glycosylation (CDG)
- Cortical dysplasia-focal epilepsy syndrome (CDFES)
- Cortical malformation syndrome
- Creatine transporter deficiency (CTD)
- Developmental and epileptic encephalopathy (DEE)
- DOORS syndrome
- Dravet syndrome
- Early infantile epileptic encephalopathy (EIEE)
- Early infantile epileptic encephalopathy with cerebellar atrophy
- Epilepsy-aphasia syndromes (EAS)
- Epilepsy, hearing loss, and intellectual disability syndrome (EHLIDS)
- Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability and gingival overgrowth syndrome
- Familial encephalopathy with neuroserpin inclusion bodies (FENIB)
- Familial focal epilepsy with variable foci (FFEVF)
- Familial hemiplegic migraine (FHM)
- Familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
- Familial paroxysmal nonkinesigenic dyskinesia (PNKD1)
- FBXO11-related neurodevelopmental disorder
- GABA-transaminase (GABA-T) deficiency
- Generalized epilepsy and paroxysmal dyskinesia (GEPD)
- Genetic epilepsy with febrile seizures plus (GEFS+)
- Glass syndrome
- Glucose transporter type 1 deficiency syndrome (Glut1 DS)
- Glycine encephalopathy
- Glycosylphosphatidylinositol (GPI) biosynthesis defect
- GM3 synthase deficiency
- GPHN-related spectrum disorder including seizures, autism and intellectual disability
- Guanidinoacetate methyltransferase (GAMT) deficiency
- Hyperekplexia
- Hyperglycinemia, lactic acidosis, and seizures (HGCLAS), also known as pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
- Infantile epilepsy, cataracts, and developmental delay
- Infantile hypotonia with intellectual disability and characteristic facies
- Infection-induced acute necrotizing encephalopathy
- Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency
- Intellectual disability
- Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
- Intellectual disability with epilepsy (MRXE)
- Intellectual disability, delayed myelination, seizures and dysmorphic features syndrome
- Intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC)
- Intractable neonatal myoclonus
- Juvenile myoclonic epilepsy (JME)
- Kleefstra syndrome
- Knobloch syndrome
- Kohlschutter syndrome
- Koolen-de Vries syndrome
- Lateral temporal lobe epilepsy (ADLTE)
- Metachromatic leukodystrophy (MLD)
- Microcephaly, epilepsy, and diabetes syndrome (MEDS)
- Miller-Dieker syndrome, isolated lissencephaly sequence, and subcortical band heterotopia
- Mitochondrial DNA depletion syndrome 2 (MTDPS2)
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
- Molybdenum cofactor deficiency
- Mowat-Wilson syndrome
- Mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome A
- Mucopolysaccharidosis type IIIB (MPS IIIB)
- Multiple sulfatase deficiency (MSD)
- Myoclonic epilepsy
- Myoclonic-atonic epilepsy (MAE)
- Neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL)
- Neurodevelopmental disorder with craniofacial abnormalities
- Neurodevelopmental disorders
- Neuronal ceroid lipofuscinosis (NCL)
- Niemann-Pick disease type C
- Nocturnal frontal lobe epilepsy (ADNFLE)
- Obesity, hyperphagia, and developmental delay (OBHD)
- Occipital cortical malformations
- Periventricular nodular heterotopia (PVNH)
- Peroxisomal fatty acyl-CoA reductase 1 deficiency
- Phosphoglycerate dehydrogenase deficiency, which includes Neu-Laxova syndrome (NLS)
- Phosphoserine aminotransferase (PSAT) deficiency
- Phosphoserine phosphatase deficiency (PSPHD)
- Pierpont syndrome and syndromic intellectual disability
- Pitt-Hopkins syndrome
- Pitt-Hopkins-like syndrome
- Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome
- Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (PEHO-like syndrome)
- Progressive microcephaly with seizures and cerebral and cerebellar atrophy
- Progressive myoclonic epilepsy (PME)
- PURA syndrome
- Pyridoxal 5’-phosphate-dependent epilepsy
- Pyridoxine-dependent epilepsy
- Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN)
- Rett syndrome
- Schinzel-Giedion syndrome (SGS)
- Seizures, cortical blindness, and microcephaly syndrome (SCBMS)
- SeSAME syndrome
- Singleton-Merten syndrome
- Smith-Kingsmore syndrome
- Smith-Magenis syndrome
- Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome
- Succinic semialdehyde dehydrogenase (SSADH) deficiency
- Sulfite oxidase deficiency
- Tay-Sachs disease, also known as beta-hexosaminidase A (HEXA) deficiency
- Temple-Baraitser syndrome (TMBTS)
- Temtamy syndrome
- Tetrahydrobiopterin-deficient hyperphenylalaninemia due to quinoid dihydropteridine reductase (DHPR) deficiency
- Thiamine metabolism dysfunction syndrome 2 (THMD2), also known as biotin-responsive basal ganglia disease (BBGD)
- Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type
- Tuberous sclerosis complex (TSC)
- Tyrosine hydroxylase (TH) deficiency
- West syndrome
- Zellweger spectrum disorder (ZSD)
- Zimmermann-Laband syndrome (ZLS)
Clinical description
To view the complete clinical description of this panel, click here.
Inheritance
Inherited epilepsy conditions can occur in several inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked.
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. In addition, the analysis covers the select non-coding variants specifically defined in the table below. 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 | ||
| 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 | ||
| HEXA | NM_000520.4 | ||
| HNRNPU | NM_031844.2 | ||
| HTT* | NM_002111.8 | ||
| IDH3A | NM_005530.2 | ||
| IER3IP1 | NM_016097.4 | ||
| IFIH1 | NM_022168.3 | ||
| IQSEC2 | NM_001111125.2 | ||
| ITPA | NM_033453.3 | ||
| 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.
HTT: Deletion/duplication and sequencing analysis is not offered for exon 1. Trinucleotide repeat expansions are not determined on this assay.
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.
