DNA icon

Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via the ALG13 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
7355 ALG13 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7355ALG1381479 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 (EIEE) is a clinically and genetically heterogeneous neurodevelopmental disorder. The key feature of EIEE is onset of frequent and/or severe seizures within the first few weeks of life (Noh et al. 2012. PubMed ID: 22342633).

ALG13-related early infantile epileptic encephalopathy is a rare genetic cause for early infantile epilepsy. Major symptoms of this disorder include intractable seizures, severe cognitive impairment, developmental regression after onset of seizures, and hypotonia. Some patients present hydrocephalus, pyramidal and extrapyramidal signs. Initial EEG shows Hypsarrhythmia and Multifocal discharges, while MRI presents structural brain abnormalities including cerebral atrophy and delayed myelination. Patients could be diagnosed as having Lennox-Gastaut syndrome or West syndrome (Allen et al. 2013. PubMed ID: 23934111; Kobayashi et al. 2016. PubMed ID: 26482601).

Pathogenic variants in ALG13 are also associated with congenital disorder of glycosylation type I (CDG-I) (Timal et al. 2012. PubMed ID: 22492991).

A de novo common pathogenic variant c.320A>G in the ALG13 gene has been repeatedly reported in females with epileptic encephalopathy. However, male patients with either inherited or de novo pathogenic variant in the gene show a different phenotype, congenital disorder of glycosylation type I (Timal et al. 2012. PubMed ID: 22492991; Gadomski et al. 2017. PubMed ID: 28777499).

Genetics

ALG13-related early infantile epileptic encephalopathy is inherited in an X-linked dominant manner. It is caused by pathogenic variants in the ALG13 gene encoding a subunit of the uridine diphosphate-N-acetylglucosamine transferase. ALG13 is the soluble subunit recruited by membrane-bound ALG14 to form the heterodimeric ALG13/ALG14 complex catalyzing the formation of GlcNAc2-PP-dolichol, the second step in the synthesis of the lipid-linked oligosaccharides precursor for N-glycan assembly (Allen et al. 2013. PubMed ID: 23934111; Timal et al. 2012. PubMed ID: 22492991).

Reported pathogenic variants in ALG13 are missense only. No large deletions/duplications involving the ALG13 locus have been reported yet (Human Gene Mutation Database). De novo pathogenic variants in ALG13 have been reported (Allen et al. 2013. PubMed ID: 23934111).

Clinical Sensitivity - Sequencing with CNV PG-Select

In study of severe early infantile Epileptic Encephalopathy, less than 1% (2 in 264) of cases were found to be caused by de novo pathogenic variants in ALG13 (Allen et al. 2013. PubMed ID: 23934111).

To date, no large deletions/duplications involving ALG13 have been reported.

Testing Strategy

This test provides full coverage of all coding exons of the ALG13 gene, except for the region noted below, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

The test is recommended for patients suspected to have ALG13-related early infantile epileptic encephalopathy.

Gene

Official Gene Symbol OMIM ID
ALG13 300776
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Epileptic Encephalopathy, Early Infantile, 36 XL 300884

Citations

  • Allen et al. 2013. PubMed ID: 23934111
  • Gadomski et al. 2017. PubMed ID: 28777499
  • Human Gene Mutation Database (Bio-base).
  • Kobayashi et al. 2016. PubMed ID: 26482601
  • Noh et al. 2012. PubMed ID: 22342633
  • Timal et al. 2012. PubMed ID: 22492991

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

loading Loading... ×

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: $
×
Copy Text to Clipboard
×