Ataxia with Oculomotor Apraxia Type 2, Deletions-Duplications (MLPA) SETX Gene
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000556032.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2017-07-05
Last annual review date for the lab: 2021-01-04 Past due LinkOut
At a Glance
Diagnosis
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)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Reference Laboratory Genetics
View lab's website
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
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
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity > 98% Specificity > 98% with the maximal possible technical accuracy (> 99.8%)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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