MYOC gene mutation analysis
GTR Test Accession: Help GTR000562545.1
INHERITED DISEASEOPHTHALMOLOGY
Last updated in GTR: 2019-02-04
Last annual review date for the lab: 2024-01-08 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Glaucoma 1, open angle, A
Genes (1): Help
MYOC (1q24.3)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Indviduals with a personal and/or family history of symptoms consistent …
Not provided
Establish or confirm diagnosis; Guidance for management; Lifestyle planning; ...
Ordering Information
Offered by: Help
Genetics and Molecular Pathology
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
Test Order Code: Help
MYOC
Lab contact: Help
Andrew Dubowsky, Lab Director
andrew.dubowsky@sa.gov.au
61 8 8204 6447
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.
How to Order: Help
Refer to our website; standard laboratory test request form. Contact the laboratory directly for further details
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Testing of the entire gene is available, however it is recommended that initial diagnostic testing be restricted to exon 3 of the MYOC gene. If no Class 3, 4 or 5 variants are detected, testing of the remaining exons will not be performed unless requested. Cascade testing offered to family … View more
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Clinical utility: Help
Establish or confirm diagnosis
Guidance for management
Lifestyle planning
Predictive risk information for patient and/or family members
Target population: Help
Indviduals with a personal and/or family history of symptoms consistent with primary open angle glaucoma, or juvenile open angle glaucoma
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Review clinical importance described in myocilin.com locus specific database, ClinVar, and HGMD and literature. Assessment of classification criteria specified by ACMG and clinical review team meeting.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No. "Referral to a clinical genetics service is recommended. Predictive testing is currently NOT recommended using this variant for assessing disease risk. Sanger sequencing to confirm this variant and analysis of parental samples may help to further elucidate the clinical significance of this variant. If required, please send the parental samples … View more

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Communication by way of patient specific written formal intepretive report
Research:
Is research allowed on the sample after clinical testing is complete? Help
Yes, and only if formal written consent has been provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
DNA is extracted from the patient specimen, PCR amplification and sequence analysis of the entire coding region/ or indicated exons plus additional flanking intronic or other non-coding sequence. Sanger sequencing is carried out and the sequence is visualised on a capillary sequencer. Sequencing is performed separately in both the forward … View more
Test Confirmation: Help
Second independently collected specimen recommended for positive diagnostic tests, and all presymptomatic tests.
Test Comments: Help
Analysis restricted to bi-directional DNA sequencing of the intron exon boundarys of the entire MYOC gene; MLPA / copy number analysis not performed.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Proficiency Testing, both external and internal. Sanger of PCR fragments at an the error rate is less than 0.01% (99.99% accuracy). Technical specificity for all methods used in our lab estimated at > 99.5% and technical sensitivity > 99.5%. Mutation detection reproducibility for Sanger sequencing is 100%.
Assay limitations: Help
Large genomic rearrangements, small deletions and point mutations that remove a primer site.
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
General module for PCR amplification and bidirectional sequencing of samples provided - NB gene not specific.
VUS:
Software used to interpret novel variations Help
Alamut Visual, plus supplemented with a number of online tools.

Laboratory's policy on reporting novel variations Help
Detailed interpretative report provided for Class 3, 4, and 5, however Class 3 (VUS) on reported where patient has elected to know about identification of VUS. Class 1 and 2 variants are not reported.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.