Pontocerebellar Hypoplasia via the SEPSECS 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
7919 SEPSECS 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7919SEPSECS81479 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 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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).

PCH2D is also known as progressive cerebellocerebral atrophy (PCCA). Clinical features include developmental delay, sleep disturbance, irritability, slurred speech, spastic quadriplegia, seizures, choreiform movements, dysmetria, tonic upgaze, nystagmus, hypotonia and intellectual disability. Optic nerve atrophy and mild secondary mitochondrial myopathy have been reported in some cases (Ben-Zeev et al. 2003. PubMed ID: 12920088; Agamy et al. 2010. PubMed ID: 20920667; Iwama et al. 2016. PubMed ID: 26888482; Pavlidou et al. 2016. PubMed ID: 26805434).

Genetics

All pontocerebellar hypoplasias are transmitted with an autosomal recessive mode of inheritance. PCH2D is caused by pathogenic variants in the SEPSECS gene (Anttonen et al. 2015. PubMed ID: 26115735). To date, about 10 pathogenic variants have been identified. Half of the variants are missense and the other half are of the truncating type, including one single exon deletion (Human Gene Mutation Database).

SEPSECS encodes the SepSecS protein that is involved in mammalian brain development and function (Agamy et al. 2010. PubMed ID: 20920667; Zhang and Zarbl. 2008. PubMed ID: 19122877).

Clinical Sensitivity - Sequencing with CNV PG-Select

Pathogenic variants in the SEPSECS gene appear to be rare. Such variants have been reported in a total of 13 unrelated patients.

Copy number variants also appear to be rare. Only one single exon deletion has been reported to date (Iwama et al. 2016. PubMed ID: 26888482; Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the SEPSECS 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 pontocerebellar hypoplasia and a family history consistent with autosomal recessive mode of inheritance. Family members of patients who have known SEPSECS pathogenic variants are also candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SEPSECS.

Gene

Official Gene Symbol OMIM ID
SEPSECS 613009
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Pontocerebellar Hypoplasia Type 2D AR 613811

Related Tests

Name
AMPD2-Related Disorders via the AMPD2 Gene
Pontocerebellar Hypoplasia Panel

Citations

  • Agamy et al. 2010. PubMed ID: 20920667
  • Anttonen et al. 2015. PubMed ID: 26115735
  • Barth. 1993. PubMed ID: 8147499
  • Ben-Zeev et al. 2003. PubMed ID: 12920088
  • Burglen et al. 2012. PubMed ID: 22452838
  • Human Gene Mutation Database (Bio-base).
  • Iwama et al. 2016. PubMed ID: 26888482
  • Namavar et al. 2011. PubMed ID: 21368912
  • Pavlidou et al. 2016. PubMed ID: 26805434
  • Samanta and Willis. 2016. PubMed ID: 27570394
  • Zhang and Zarbl. 2008. PubMed ID: 19122877

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.

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 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.

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