GTR Test Accession:
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GTR000504101.4
CAP
Last updated in GTR: 2018-09-24
View version history
GTR000504101.4, last updated: 2018-09-24
GTR000504101.3, last updated: 2017-08-07
GTR000504101.2, last updated: 2016-07-27
GTR000504101.1, last updated: 2014-05-02
Last annual review date for the lab: 2021-10-14
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LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Waardenburg syndrome type 2A
Genes (1):
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MITF (3p13)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals exhibiting symptoms consistent with Waardenburg Syndrome Type 2; symptoms …
Clinical validity:
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MITF mutations have been described in 10-20% of individuals with …
Clinical utility:
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Establish or confirm diagnosis;
Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Test short name:
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MITF
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Lab contact:
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How to Order:
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1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
Order URL
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,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| 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
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130 Capillary Sequencing Instrument
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical validity:
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MITF mutations have been described in 10-20% of individuals with Waardenburg syndrome.
Clinical utility:
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Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Predictive risk information for patient and/or family members
Target population:
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Individuals exhibiting symptoms consistent with Waardenburg Syndrome Type 2; symptoms include Congenital sensorineural hearing loss and pigmentary abnormalities of the iris, hair, and skin. The hearing loss is typically non-progressive, sensorineural, and may be either unilateral or bilateral. Symptoms are highly variable even within families. The incidence of mutations in …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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HGMD, Disease specific databases and an Internal Variant Database are used for variant interpretation. An assessment is also made with a splice site predictor program. Once established as a VUS, Polyphen and SIFT analyses are performed to help provide an interpretation.
HGMD, Disease specific databases and an Internal Variant Database are used for variant interpretation. An assessment is also made with a splice site predictor program. Once established as a VUS, Polyphen and SIFT analyses are performed to help provide an interpretation.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
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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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation:
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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
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, specificity and accuracy greater than 99%; determined by in-house validations.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
CAP Survey MGL3 for Sequencing Platform
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
CAP Testing Information (legacy) Help
Molecular Genetics; Connexin 26; MGL3
Yes
Method used for proficiency testing: Help
CAP Survey MGL3 for Sequencing Platform
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
CAP Testing Information (legacy) Help
Molecular Genetics; Connexin 26; MGL3
VUS:
Software used to interpret novel variations
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Polyphen and SIFT
Laboratory's policy on reporting novel variations Help
Routine Report
Polyphen and SIFT
Laboratory's policy on reporting novel variations Help
Routine Report
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Description of PT method
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.