Ataxia, Comprehensive Evaluation
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000552523.1
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2017-01-05
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive
Autosomal recessive ataxia due to ubiquinone deficiency; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia-telangiectasia syndrome; ...
AFG3L2 (18p11.21), ANO10 (3p22.1-21.33), APTX (9p21.1), ATM (11q22.3), ATN1 (12p13.31), ...
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
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Ordering Information
Offered by: Help
Athena Diagnostics
View lab's website
Test Order Code: Help
6930
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 44
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 42
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
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)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy are > 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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