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Primary Congenital Glaucoma
Research Genetic test
Help
offered by
Human Developmental Genetics Laboratory
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GTR Test Accession: Help GTR000327717.6
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 (5): Help
Glaucoma 3, primary infantile, B; Glaucoma 1, open angle, A; Glaucoma 1, open angle, I; ...
Genes (2): Help
CYP1B1 (2p22.2), FOXC1 (6p25.3)
Study description: Help
Screening of genes known to be involved in eye development …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with eye conditions and their family members are eligible.
Methods (2): Help
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Genetics Study of Human Developmental Disorders
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Screening of genes known to be involved in eye development 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 … View more
View citations (2)
  • Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA, Sequeira S, Schinzel A, Semina EV. Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clin Genet. 2016;90(4):378-82. doi:10.1111/cge.12816. Epub 2016 Jul 12. PMID: 27272408.
  • Analysis of . Reis LM, et al. Mol Vis. 2016;22:1229-1238. Epub 2016 Oct 17. PMID: 27777502.
Study type: Help
Observational study
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: 5
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 *
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
Mutation scanning 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

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