Card kit

Invitae Epilepsy Panel

Test code: 03401 •

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In addition to insurance and patient-pay billing options, this test is also available through a sponsored, no-charge testing program.

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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.

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)
  • autosomal dominant lateral temporal epilepsy (ADLTE)
  • 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
  • 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
  • hypomagnesemia, seizures and intellectual disability
  • 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
  • KCNQ2-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
  • Leigh syndrome due to mitochondrial complex IV deficiency
  • leukoencephalopathy with dystonia and motor neuropathy
  • megaloblastic anemia due to dihydrofolate reductase deficiency
  • Menkes disease
  • 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
  • neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
  • 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
  • PIGB-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

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.Learn more about specimen requirementsRequest a specimen collection kit

Clinical description and sensitivity

Clinical description:

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

Clinical description and sensitivity

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.

Assay 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.

Assay 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.

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You can customize this test by clicking genes to remove them.

Primary panel

302 genes selected
AARS
ABAT
ADAR
ADSL
ALDH5A1
ALDH7A1
ALG1
ALG12
ALG13
ALG6
AMACR
AMT
AP2M1
AP3B2
Show all genes
Select add-on genes
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.

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