GTR Test Accession:
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GTR000576333.5
Last updated in GTR:
2023-12-05
View version history
GTR000576333.5,
last updated:
2023-12-05
GTR000576333.4,
last updated:
2022-02-06
GTR000576333.3,
last updated:
2021-02-07
GTR000576333.2,
last updated:
2020-05-03
GTR000576333.1,
registered in GTR:
2020-04-05
Last annual review date for the lab: 2024-01-30
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (5):
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Human genome
Genes (2):
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CNBP (3q21.3);
DMPK (19q13.32)
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Patients with clinical features of neuromuscular disorders including muscular dystrophies, …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Saliva
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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NR007
View other test codes
View other test codes
CPT codes:
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Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Genomic Unity Neuromuscular Disorders Analysis orders are initiated at https://www.variantyx.com/resources/provider-resources/order-forms/. Following submission, a clinical coordinator will get in touch to send a blood or saliva sample collection kit if required and facilitate collection of the test requisition and informed consent forms.
Order URL
Order URL
Informed consent required:
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Yes
Test strategy:
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When results are not positive, there is an option to reflex up to Genomic Unity Exome Analysis or Genomic Unity Exome Plus Analysis, and Genomic Unity Whole Genome Analysis.
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test development
Conditions
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Total conditions: 5
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Genes
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Total genes: 2
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Mutation scanning of select exons
Tandem repeat expansion analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Patients with clinical features of neuromuscular disorders including muscular dystrophies, congenital myopathies and congenital myasthenic syndromes.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants are categorized as pathogenic, likely pathogenic or a variant of uncertain significance (VUS) utilizing the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines as published by Richards et al 2015.
Variants are categorized as pathogenic, likely pathogenic or a variant of uncertain significance (VUS) utilizing the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines as published by Richards et al 2015.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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The patient's DNA is sequenced using whole genome sequencing conducted on an Illumina platform at 30X mean mappable coverage. The relevant region(s) of DNA are subsequently isolated in-silico for analysis.
Test Comments:
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This test includes full sequence and del/dup analysis of the indicated genes as well as repeat expansion analysis CNBP, DMPK, GIPC1, LRP12, RFC1 and VWA1 genes.
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed both in-house and at an outside lab
Test performance comments
Specimen preparation and clinical grade sequencing is performed by outside CLIA labs. All data processing, analysis, interpretation and report generation is performed in-house.
Interpretation performed in-house
Report generated in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed both in-house and at an outside lab
Test performance comments
Specimen preparation and clinical grade sequencing is performed by outside CLIA labs. All data processing, analysis, interpretation and report generation is performed in-house.
Analytical Validity:
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The Genomic Unity® Neuromuscular Disorders Analysis is designed to identify genetic variants that correlate with neuromuscular 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 126 genes, and short tandem repeat expansions …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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Proprietary Variantyx Genomic Intelligence platform
Laboratory's policy on reporting novel variations Help
Test results will only be released to the ordering healthcare provider and additional healthcare provider(s) indicated on the test requisition form.
Proprietary Variantyx Genomic Intelligence platform
Laboratory's policy on reporting novel variations Help
Test results will only be released to the ordering healthcare provider and additional healthcare provider(s) indicated on the test requisition form.
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:
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Not provided
Additional Information
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.