Ordering
  • Test code: 03401
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
Billing
 

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.

Order test

Primary panel (290 genes)

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)

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

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

To view the complete clinical description of this panel, click here.

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.

Inherited epilepsy conditions can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.

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.