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Dentatorubro-pallidoluysian atrophy
Clinical Genetic Test
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offered by
Molecular Genetics Laboratory
GTR Test Accession: Help GTR000558861.1
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Registered in GTR: 2018-01-09
View version history
Last annual review date for the lab: 2024-07-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (1): Help
Dentatorubral-pallidoluysian atrophy
Genes (1): Help
ATN1 (12p13.31)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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 *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity: 100%; specficity: 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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