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Early Infantile Epileptic Encephalopathy via the KCNA2 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8859 KCNA2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8859KCNA281479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Eric Bend, PhD

Clinical Features and Genetics

Clinical Features

Early infantile epileptic encephalopathy 32 is characterized by febrile or afebrile focal seizures with mild to moderate intellectual disability, delayed speech development, ataxia, tremor, and myoclonus. Seizure types can be hemiclonic, myoclonic, myoclonic-atonic, focal dyscognitive, generalized tonic-clonic, or absence. Patients have normal early development until the onset of seizures between 5 and 17 months of age. After a period of several years with frequent seizures, seizures significantly reduce and patients may even become seizure-free. The seizures can be significantly decreased by medication in some patients. EEG findings are variable, and include multifocal sharp waves, sharp slow waves, polyspikes, or generalized spike waves. MRI generally shows normal findings (Syrbe et al. 2015).

Genetics

Early infantile epileptic encephalopathy 32 is inherited in an autosomal dominant manner and is caused by pathogenic variants in KCNA2. KCNA2 encodes voltage-gated potassium channel, shaker-related subfamily, member 2. The reported KCNA2 pathogenic variants are missense, as well as one large deletion encompassing the KCNA2 locus (Syrbe et al. 2015; Lal et al. 2015). The vast majority of pathogenic variants occurred de novo (Syrbe et al. 2015; Hundallah et al. 2016). Patients with gain-of-function pathogenic variants have a more severe phenotype and have frequent seizures. In contrast, patients with loss-of-function pathogenic variants have late-onset seizures, and become seizure-free in childhood (Kearney 2015).

Clinical Sensitivity - Sequencing with CNV PG-Select

De novo pathogenic variants in KCNA2 cause mild to severe epileptic encephalopathy in roughly 1.7% of cases across different cohorts (Syrbe et al 2015).

Testing Strategy

This test provides full coverage of all coding exons of the KCNA2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Sequencing of KCNA2 is recommended for patients who are suspected to have early infantile epileptic encephalopathy 32.

Gene

Official Gene Symbol OMIM ID
KCNA2 176262
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Epileptic Encephalopathy, Early Infantile, 32 AD 616366

Citations

  • Hundallah K. et al. 2016. European Journal of Paediatric Neurology. 20: 657-60. PubMed ID: 27117551
  • Kearney J.A. 2015. Pediatric Neurology Briefs. 29: 27. PubMed ID: 26933568
  • Lal D. et al. 2015. Plos Genetics. 11: e1005226. PubMed ID: 25950944
  • Syrbe S. et al. 2015. Nature Genetics. 47: 393-9. PubMed ID: 25751627

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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