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Congenital Disorder of Glycosylation, Type IIm via the SLC35A2 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
10645 SLC35A2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10645SLC35A281479 81479,81479 $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

Congenital disorder of glycosylation, type IIm or early infantile epileptic encephalopathy-22 is characterized by early-onset epileptic encephalopathy. The major symptoms include early infantile onset intractable seizures, severe intellectual disability with lack of speech, hypotonia, hypsarrhythmia, microcephaly, dysmorphic features, recurrent infection and visual impairment. MRI shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. Biochemical analysis in the biomarker transferrin may help the clinical diagnosis (Kodera et al. 2013. PubMed ID: 24115232; Ng et al. 2013. PubMed ID: 23561849; Westenfield et al. 2018. PubMed ID: 29907092).

Genetics

Congenital disorder of glycosylation, type IIm is inherited in an X-linked dominant manner and is caused by pathogenic variants in the SLC35A2 gene. SLC35A2 encodes solute carrier family 35 (UDP-galactose transporter), member 2. The UDP-galactose transporter selectively supplies UDP galactose from the cytosol to the Golgi lumen and is a critical component of glycosylation pathways such as N-glycosylation and O-glycosylation in eukaryotes. Pathogenic variants in SLC35A2 include missense, nonsense, small frameshift deletions, and a complex rearrangement. No large deletions/duplications have been reported. De novo pathogenic variants are common (Kodera et al. 2013. PubMed ID: 24115232; Human Gene Mutation Database).

Although most cases are female, affected males have been reported with somatic mosaicism, suggesting that a wild-type SLC35A2 allele may be required for survival. Female mosaicism has also been reported (Kodera et al. 2013. PubMed ID: 24115232; Ng et al. 2013. PubMed ID: 23561849; Westenfield et al. 2018. PubMed ID: 29907092).

Clinical Sensitivity - Sequencing with CNV PG-Select

Clinical sensitivity of SLC35A2 in a large cohort of patients with congenital disorder of glycosylation, type IIm relevant phenotypes is unavailable in the literature as most studies are case reports. Analytical sensitivity should be high.

Testing Strategy

This test provides full coverage of all coding exons of the SLC35A2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

SLC35A2 sequencing is recommended for patients who are suspected to have congenital disorder of glycosylation, type IIm.

Gene

Official Gene Symbol OMIM ID
SLC35A2 314375
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Congenital Disorder of Glycosylation Type IIm XL 300896

Citations

  • Human Gene Mutation Database (Bio-base).
  • Kodera et al. 2013 PubMed ID: 24115232
  • Ng et al. 2013 PubMed ID: 23561849
  • Westenfield et al. 2018 PubMed ID: 29907092

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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