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Pontocerebellar Hypoplasia via the EXOSC3 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
EXOSC3 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7639EXOSC381479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • 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). 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 (Rudnik-Schöneborn. 2013. PubMed ID: 23284067).

PCH1, previously known as Norman’s disease, is distinguished by a loss of motor neurons in the anterior horn of the spinal cord similar to that observed in spinal muscular atrophy (SMA), resulting in sensory and motor neuropathy. Additional features include severe hypotonia, fasciculation, ataxia, dysplasia, joint contractures, visual abnormalities and hyperventilation. Symptoms are usually apparent at birth, and death usually occurs within the first year of life. However, survival into childhood has been described. Based on the clinical features and electrophysiological and muscle biopsy findings, a number of patients with PCH1 were originally diagnosed with infantile SMA-PCH (Norman. 1961. PubMed ID: 13729575; Rudnik-Schöneborn et al. 2003. PubMed ID: 12548734; Renbaum et al. 2009. PubMed ID: 19646678). PCH1 appears to be rare.

PCH1 is further divided into PCH1A and PCH1B based on the causative gene.


All PCH types are transmitted with an autosomal recessive mode of inheritance. Pathogenic variants in the EXOSC3 gene result in PCH1B (Wan. 2012. PubMed ID: 22544365). About 15 pathogenic variants have been reported to date. Half of these are missense; the other half consist of truncating variants and include splicing, small frameshift deletions/insertions, and indels (Human Gene Mutation Database). To date, only one large pathogenic deletion that includes the first three exons of the gene has been reported (Eggens. 2014. PubMed ID: 24524299).

Defects in EXOSC3 were detected in patients of several ethnic and geographic origins such as American/European, Canadian/Cuban, German/Turkish, Spanish, Czech and Japanese (Wan. 2012. PubMed ID: 22544365; Ryan. 2000. PubMed ID: 11020648; Salman. 2003. PubMed ID: 12731647). They appear to be a significant cause of PCH1. The current data suggest that patients with PCH1 and pathogenic variants in EXOSC3 have a milder phenotype and variable life span, ranging from a few months of age to late teens, compared to that observed in patients with no EXOSC3 pathogenic variants (Wan. 2012. PubMed ID: 22544365).

The EXOSC3 gene encodes a core component of the human exosome complex, which is involved in RNA processing and degradation (Brouwer et al. 2001. PubMed ID: 11110791).

Clinical Sensitivity - Sequencing with CNV PG-Select

Pathogenic variants in the EXOSC3 gene were detected in 60% of patients with a clinical diagnosis of Pontocerebellar Hypoplasia 1 (Wan et al. 2012. PubMed ID: 22544365). To date, only one large pathogenic deletion that includes the first three exons of the EXOSC3 gene has been reported (Eggens. 2014. PubMed ID: 24524299).

Testing Strategy

This test provides full coverage of all coding exons of the EXOSC3 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 a combination of pontocerebellar hypoplasia and infantile spinal muscular atrophy, a family history consistent with autosomal recessive mode of inheritance, and family members of patients who have known EXOSC3 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in EXOSC3.


Official Gene Symbol OMIM ID
EXOSC3 606489
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Pontocerebellar Hypoplasia Type 1B AR 614678

Related Test

Pontocerebellar Hypoplasia Panel


  • Barth. 1993. PubMed ID: 8147499
  • Brouwer et al. 2001 PubMed ID: 11110791
  • Eggens et al. 2014. PubMed ID: 24524299
  • Human Gene Mutation Database (Bio-base).
  • Norman. 1961. PubMed ID: 13729575
  • Renbaum et al. 2009. PubMed ID: 19646678
  • Rudnik-Schöneborn et al. 2003. PubMed ID: 12548734
  • Rudnik-Schöneborn et al. 2013. PubMed ID: 23284067
  • Ryan et al. 2000. PubMed ID: 11020648
  • Salman et al. 2003. PubMed ID: 12731647
  • Wan et al. 2012. PubMed ID: 22544365


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

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