Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000576334.5
Last updated: 2022-02-06
Test version history
- 576334.5, last updated: 2022-02-06
- 576334.4, last updated: 2021-02-07
- 576334.3, last updated: 2020-05-29
- 576334.2, last updated: 2020-05-03
- 576334.1, last updated: 2020-04-05

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Hereditary spastic paraplegia
Offered by Variantyx, Inc.

Performance Characteristics

Interpretation performed in-house
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab
Specimen preparation and clinical grade sequencing is performed by outside CLIA labs. All data processing, analysis, interpretation and report generation is performed in-house.

The Genomic Unity® Motor Neuron Disorders Analysis is designed to identify genetic variants that correlate with motor neuron disorders. This analysis includes sequence analysis (single nucleotide variants, deletions/insertions, and characterized intronic variants), copy number variants, duplications/deletions, mobile element insertions, and inversions in a panel of 116 genes, and short tandem repeat expansions in AR and C9ORF72. The sensitivity, specificity and positive predictive value of the assay is greater than 0.99 for single nucleotide variants and small insertions and deletions less than 50 base pairs. The analytical sensitivity for copy number variants reported in this assay is greater than 0.80 for variants over 300 base pairs, while the clinical sensitivity for copy number variants of any size is over 0.96. The clinical sensitivity of this test is over 0.99 for pathogenic short tandem repeats.

Citations

Not provided

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.: Yes
Method used for proficiency testingHelpMethod used for external or internal evaluation of the accuracy of test results. Lab-provided.: Intra-Laboratory

Not provided

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Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis)

Performance Characteristics

Availability

Analytical Validity

Citations

Proficiency Testing (PT)

FDA Regulatory Clearances of the Test

Reviews

Clinical resources

Consumer resources