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
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.
Methodology
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- XMutation scanning of select exons
- Tandem repeat expansion analysis
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Test comments
HelpAdditional details about the test. E.g., 'Bi-directional sequencing of exons 1-5 with concurrent analysis of Glu234Gly'.This test includes full sequence and del/dup analysis of included genes as well as repeat expansion analysis of 2 loci: AR, C9ORF72.
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Not provided
Test procedure
HelpSummary of the test methodology and/ or description of the specific steps for each method used in this assay.The patient's DNA is sequenced using whole genome sequencing conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit at 30X mean mappable coverage. The relevant region(s) of DNA are subsequently isolated in-silico for analysis.
Citations
Not provided
Tandem repeat expansions are sent out to a third party CLIA/CAP lab for orthogonal confirmation.
- Genetic Alliance
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- MedlinePlusGenetics (GHR)
- NCATS Office of Rare Diseases Research (GARD)
- MedlinePlus
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