Ataxia with Oculomotor Apraxia 2
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000506693.1
Last updated in GTR: 2013-08-22
Last annual review date for the lab: 2021-03-18 Past due LinkOut
At a Glance
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Genes (1): Help
SETX (9q34.13)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
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Ordering Information
Offered by: Help
Informed consent required: Help
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Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
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Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing system Roche GS Junior 454: Q20 read length of 400 bases (99% accuracy at 400 bases and higher for preceding bases)(Roche). Error rates usually originate in homopolymeric stretches. If such problems are encountered or if pathogenic sequence variants are found, we validate the NGS data with Sanger sequencing. MLPA … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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Regulatory Approval
FDA Review: Help
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Additional Information

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