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Open Angle Glaucoma
Research Genetic test
Help
offered by
Human Developmental Genetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000242582.5
INHERITED DISEASEOPHTHALMOLOGY
Last updated in GTR: 2019-07-03
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Last annual review date for the lab: 2022-07-12 Past due LinkOut
At a Glance
Conditions (14): Help
Primary open angle glaucoma; Glaucoma 1, open angle, A; Glaucoma 1, open angle, B more...
Genes (2): Help
CYP1B1 (2p22.2); PITX2 (4q25)
Study description: Help
Screening of genes known to be involved in glaucoma will …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with eye conditions and their family members are eligible.
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Genetics of Human Developmental Disorders
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Screening of genes known to be involved in glaucoma will be performed by exome/genome and/or Sanger sequencing. If no mutation is found, data will be reviewed for novel gene identification and we will continue to screen samples for mutations in other genes characterized as research progresses. Referring providers will be … View more
Offered by: Help
Human Developmental Genetics Laboratory
Person responsible for the study: Help
Elena Semina, PhD, Lab Director
Study contact: Help
Linda Reis, MS, CGC, Genetic Counselor
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with eye conditions and their family members are eligible.
Consent form: Help
Not provided
Conditions Help
Total conditions: 14
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information
Practice guidelines:
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.