GTR Test Accession:
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GTR000553219.4
CAP
Last updated in GTR:
2020-08-10
View version history
GTR000553219.4,
last updated:
2020-08-10
GTR000553219.3,
last updated:
2019-08-13
GTR000553219.2,
last updated:
2018-08-20
GTR000553219.1,
registered in GTR:
2017-04-07
Last annual review date for the lab: 2024-07-22
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (93):
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Dystonic disorder;
3-methylglutaconic aciduria type 1;
3-methylglutaconic aciduria, type VIIB
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Genes (170):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
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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- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
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.
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.
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 (no manufacturer test name)
Informed consent required:
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No
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 Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 93
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 170
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
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;
Monitoring;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Formate assay in body fluids: application in methanol poisoning. Makar AB, et al. Biochem Med. 1975;13(2):117-26. doi:10.1016/0006-2944(75)90147-7. PMID: 1. Balint B, Bhatia KP. Dystonia: an update on phenomenology, classification, pathogenesis and treatment. Curr Opin Neurol 2014: 27: 468-476. 2. Lohmann K, Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep 2017: 17: 26. 3. van Egmond ME, Kuiper A, Eggink H et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry 2015: 86: 774-781. 4. Stoessl AJ, Mckeown MJ. Movement disorders. Handb Clin Neurol 2016: 136: 957-969. 5. Friedman J, Roze E, Abdenur JE et al. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 2012: 71: 520-530. 6. Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999: 14:709-715..
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.
Recommended fields not provided:
Clinical validity,
Target population,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Is research allowed on the sample after clinical testing is complete?,
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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Only the coding and immediate flanking regions of the included genes were analyzed. Changes in the promoter region and other non-coding regions will not be detected by our assay. Other types of rare genetic variation can interfere with this analysis. In addition, the presence of a large intragenic deletion 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:
Laboratory's policy on reporting novel variations
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All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
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.