Inheritest 300 PLUS Panel
- 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.: GTR000604233.1
- Last updated: 2023-03-19
- Test version history
- 604233.1, last updated: 2023-03-19
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 pulmonary alveolar proteinosis
Offered by Integrated Genetics Westborough
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
- RT-qPCR
- XMutation scanning of select exons
- PCR
- 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'.For individuals with two copies of the SMN1 gene, testing for the presence or absence of the variant c.*3+80T>G will be performed to help evaluate the risk of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of SMN1 are detected.
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).
For premutation carriers with 55-90 CGG repeats, reflex AGG analysis will be automatically performed and reported with the Fragile X results.
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
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