GTR Test Accession:
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GTR000592366.1
CAP
Registered in GTR:
2021-01-20
View version history
GTR000592366.1,
registered in GTR:
2021-01-20
Last annual review date for the lab: 2024-07-22
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At a Glance
Test purpose:
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Diagnosis;
Predictive;
Prognostic; ...
Conditions (116):
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Emery-Dreifuss muscular dystrophy;
Actin accumulation myopathy;
Autosomal dominant centronuclear myopathy
more...
Genes (137):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
The target population for this test is patients suspected of …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Cell culture
- Fibroblasts
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Test Order Code:
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6112
CPT codes:
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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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•All samples should be shipped via overnight delivery at room temperature.
•No weekend or holiday deliveries.
•Label each specimen with the patient’s name, date of birth and date sample collected.
•Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
https://dnatesting.uchicago.edu/tests/neuromuscular-disorders-exome
Order URL
•No weekend or holiday deliveries.
•Label each specimen with the patient’s name, date of birth and date sample collected.
•Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
https://dnatesting.uchicago.edu/tests/neuromuscular-disorders-exome
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Confirmation of research findings
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Decline to answer
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:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 116
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 137
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
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;
Predictive;
Prognostic;
Recurrence
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Development of a special electrode for continuous subcutaneous pH measurement in the infant scalp. Stamm O, et al. Am J Obstet Gynecol. 1976;124(2):193-5. doi:10.1016/s0002-9378(16)33297-5. PMID: 1. Laing, N.G., Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci, 2012. 49(2): p. 33-48. 2. Reed, U.C., Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr, 2009. 67(2A): p. 343-62. 3. Hicks, D., et al., Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet, 2014. 23(9): p. 2353-63. 4. Brislin, R.P. and M.C. Theroux, Core myopathies and malignant hyperthermia susceptibility: a review. Paediatr Anaesth, 2013. 23(9): p. 834-41. 5. Jungbluth, H., et al., Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord, 2007. 17(4): p. 338-45. 6. Pierson, C.R., et al., X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol, 2005. 64(7): p. 555-64. 7. Fardeau, M. and F. Tome, Congenital Myopathies, in Myology, A. Engel and C. Franzini-Armstrong, Editors. 1994, McGraw-Hill.
Target population:
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The target population for this test is patients suspected of having a diagnosis of a neuromuscular disorder. Please note, this assay includes analysis for the recurrent c.930+189C>T deep intronic variant in the COL6A1 gene.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Research:
Is research allowed on the sample after clinical testing is complete?
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http://dnatesting.uchicago.edu/research
http://dnatesting.uchicago.edu/research
Recommended fields not provided:
Clinical validity,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100%
Accuracy 100%
Precision 100%
Assay limitations:
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This assay covers the coding and immediate flanking regions of the included genes. Variants in the promoter region and in other non-coding regions will not be detected. Variants that occur within regions of high homology and/or repetitiveness may not be detected due to issues with alignment. The technical sensitivity of …
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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
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations
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A custom collection of bioinformatics tools.
Laboratory's policy on reporting novel variations Help
All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
A custom collection of bioinformatics tools.
Laboratory's policy on reporting novel variations Help
All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
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.