Pontocerebellar Hypoplasia via the TSEN34 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
7933 TSEN34 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7933TSEN3481479 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

  • Renee Bend, PhD

Clinical Features and Genetics

Clinical Features

Pontocerebellar hypoplasias (PCH) are a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by abnormal development of the pons, cerebellum and cerebral cortex; progressive microcephaly; psychomotor developmental delay; and swallowing difficulties (Barth. 1993. PubMed ID: 8147499; Namavar et al. 2011. PubMed ID: 21368912). Several subtypes have been described based on the clinical presentation, progression, and pathological and molecular defects. However, clinical overlapping features among various subtypes have been reported, and some genes have been implicated in more than one subtype, suggesting that PCH constitute a spectrum (Burglen et al. 2012. PubMed ID: 22452838; Samanta and Willis. 2016. PubMed ID: 27570394).

PCH2 is the most common form of the syndrome (Barth et al. 1995. PubMed ID: 7854532; Namavar et al. 2011. PubMed ID: 20952379; Namavar et al. 2011. PubMed ID: 21749694). It is distinguished by dystonia, chorea and cerebral visual defects (Barth et al. 1990. PubMed ID: 2370559). Additional features include seizures, ataxia, hypotonia, muscle weakness and wasting, and nystagmus. Symptoms are usually apparent at birth and death occurs in early infancy or childhood.

Genetics

All pontocerebellar hypoplasias are transmitted with an autosomal recessive mode of inheritance. Pathogenic variants in the TSEN34 gene account for less than 2% of patients with PCH2 (Namavar et al. 2011. PubMed ID: 20952379). To date, only one causative homozygous missense variant has been reported (Budde et al. 2008. PubMed ID: 18711368).

The TSEN34 gene encodes one of four subunits of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The other subunits are TSEN2, TSEN15, and TSEN54 (Paushkin et al. 2004. PubMed ID: 15109492).

Clinical Sensitivity - Sequencing with CNV PG-Select

Pathogenic variants in the TSEN34 gene account for less than 2% of patients with PCH2 (Namavar et al. 2011. PubMed ID: 20952379).

Thus far, no pathogenic gross deletions or duplications have been reported in the TSEN34 gene (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the TSEN34 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with clinical features characteristic of PCH, a family history consistent with autosomal recessive mode of inheritance and no pathogenic variants in the TSEN54 gene; and family members of patients who have known TSEN34 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TSEN34.

Gene

Official Gene Symbol OMIM ID
TSEN34 608754
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Pontocerebellar Hypoplasia Type 2C AR 612390

Related Test

Name
Pontocerebellar Hypoplasia Panel

Citations

  • Barth et al. 1990. PubMed ID: 2370559
  • Barth et al. 1995. PubMed ID: 7854532
  • Barth. 1993. PubMed ID: 8147499
  • Budde et al. 2008. PubMed ID: 18711368
  • Burglen et al. 2012. PubMed ID: 22452838
  • Human Gene Mutation Database (Bio-base).
  • Namavar et al. 2011. PubMed ID: 21368912
  • Namavar Y. et al. 2011. Brain: a Journal of Neurology. 134: 143-56. PubMed ID: 20952379
  • Namavar Y. et al. 2011. Orphanet Journal of Rare Diseases. 6: 50. PubMed ID: 21749694
  • Paushkin et al. 2004. PubMed ID: 15109492
  • Samanta and Willis. 2016. PubMed ID: 27570394

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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