GTR Test Accession:
Help
GTR000514787.2
Last updated in GTR:
2015-12-20
View version history
GTR000514787.2,
last updated:
2015-12-20
GTR000514787.1,
registered in GTR:
2015-04-13
Last annual review date for the lab: 2024-03-13
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (7):
Help
Duchenne muscular dystrophy;
Autosomal dominant centronuclear myopathy;
Becker muscular dystrophy
more...
Genes (5):
Help
CAV3 (3p25.3);
DES (2q35);
DNAJB6 (7q36.3);
LMNA (1q22);
MYOT (5q31.2)
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
Help
Lab contact:
Help
Contact Policy:
Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Based on applicable state law
Pre-test genetic counseling required:
Help
Not provided
Post-test genetic counseling required:
Help
No
Recommended fields not provided:
How to Order,
Pre-test genetic counseling required,
Test strategy
Conditions
Help
Total conditions: 7
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 5
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
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:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Our diagnostic criteria requires: (i) at least 98% of the sequencing reads have a quality score (Q) above 30 (99,9% accurate), (ii) a median per base sequence quality score (Q) above 30 (99,9% accurate), (iii) at least 98% of the region of interest have over 20-fold per base coverage.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of PT method: Help
Molecular Genetics Sequencing
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of PT method: Help
Molecular Genetics Sequencing
VUS:
Laboratory's policy on reporting novel variations
Help
Decline to answer
Decline to answer
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.