Ataxia with Oculomotor Apraxia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10113 APTX 81405,81479 Order Options and Pricing
PIK3R5 81479,81479
SETX 81406,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10113Genes x (3)81479 81405, 81406, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

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

Ataxia with oculomotor apraxia (AOA) is an early-onset, autosomal recessive cerebellar ataxia characterized by oculomotor apraxia (inability to coordinate eye movements), peripheral neuropathy, and hypoalbuminemia. Depending on the mutated gene, AOA has been categorized into different types. Phenotypically, these forms share several similarities (Le Ber et al. 2005; Bohlega et al. 2011), which suggests that testing all the genes associated with this phenotype may be a good approach.

Genetics

AOA is genetically heterogeneous and is an autosomal recessive disorder. It is caused by pathogenic variants in the APTX, SETX and PIK3R5 genes (Ito et al. 2005).

AOA type 1 (AOA1) is due to pathogenic variants in APTX. APTX encodes the aprataxin protein, which is involved in DNA single-strand-break repair (SSBR) (Mosesso et al. 2005; Hirano et al. 2007). It has been reported that loss of aprataxin function leads to accumulation of SSBs, which results in human neurodegenerative disorders such as AOA1 (Tada et al. 2010).

AOA type 2 (AOA2) is due to pathogenic variants in SETX. SETX encodes the senataxin protein, which is also involved in the DNA repair pathway (Moreira et al. 2004).

AOA type 3 (AOA3) is due to pathogenic variants in PIK3R5, which encodes a p101 regulatory subunit that interacts with phosphoinositide-3-kinase (PI3K). PI3Ks are involved in various signal transduction pathways that regulate cell survival and growth, metabolism, immune, and cardiac functions (Al Tassan et al. 2011).

So far, about 30 causative variants in APTX (missense, nonsense, splicing, small deletions, small insertions and gross deletions); over 150 pathogenic variants in SETX (missense, nonsense, splicing, small deletions, small insertions, indels, gross deletions/duplications and complex genomic rearrangements) and one missense causative variant in PIK3R5 have been reported that are associated with AOA (Human Gene Mutation Database).

See individual gene test descriptions for more information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Castellotti et al. identified APTX pathogenic variants in 6% of their ataxic patients (13 out of 204) (Castellotti et al. 2011). A mutation screening 22 in Italian patients from 21 families detected SETX pathogenic variants in 13 patients (12 families) (57%), and APTX pathogenic variants in 3 patients (Nanetti et al. 2013). Clinical sensitivity for the PIK3R5 gene is difficult to estimate due to the limited number of cases.

Currently, only SETX aCGH testing is available. Gross deletions are relatively common in this gene (Nanetti et al. 2013).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

All patients with symptoms suggestive of early-onset ataxia with oculomotor apraxia are candidates.

Genes

Official Gene Symbol OMIM ID
APTX 606350
PIK3R5 611317
SETX 608465
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Al Tassan N. et al. 2012. Human Mutation. 33: 351-4.  PubMed ID: 22065524
  • Bohlega S.A. et al. 2011. Bmc Medical Genetics. 12: 27.  PubMed ID: 21324166
  • Castellotti B. et al. 2011. Neurogenetics. 12: 193-201. PubMed ID: 21465257
  • Hirano M. et al. 2007. Annals of Neurology. 61: 162-74. PubMed ID: 17315206
  • Human Gene Mutation Database (Bio-base).
  • Ito A. et al. 2005. Pediatric Neurology. 33: 53-6. PubMed ID: 15876520
  • Le Ber I. et al. 2005. Current Neurology and Neuroscience Reports. 5: 411-7. PubMed ID: 16131425
  • Moreira M.C. et al. 2004. Nature Genetics. 36: 225-7. PubMed ID: 14770181
  • Mosesso P. et al. 2005. Cellular and Molecular Life Sciences : Cmls. 62: 485-91. PubMed ID: 15719174
  • Nanetti L. et al. 2013. Orphanet Journal of Rare Diseases. 8: 123.  PubMed ID: 23941260
  • Tada M. et al. 2010. Advances in Experimental Medicine and Biology. 685: 21-33. PubMed ID: 20687492

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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