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Aniridia
Research Genetic test
Help
offered by
Human Developmental Genetics Laboratory
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GTR Test Accession: Help GTR000522645.5
INHERITED DISEASEDYSMORPHOLOGYOPHTHALMOLOGY ... View more
Last updated in GTR: 2022-07-12
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Last annual review date for the lab: 2022-07-12 Past due LinkOut
At a Glance
Conditions (1): Help
Aniridia 1
Genes (3): Help
FOXC1 (6p25.3); MAB21L1 (13q13.3); PAX6 (11p13)
Study description: Help
Screening of genes known to be involved in eye development …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with aniridia and their unaffected relatives.
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: RT-qPCR; ...
Study Description
Name: Help
Genetic Studies of Human Developmental Disorders
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Screening of genes known to be involved in eye development including PAX6 and FOXC1 will be performed by exome/genome and/or Sanger sequencing/qPCR, including regulatory region assessment. If no mutation is found, data will be reviewed for novel gene identification and we will continue to screen samples for mutations in other … View more
View citations (1)
  • Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Brémond-Gignac D, et al. Mol Vis. 2010;16:1705-11. Epub 2010 Aug 22. PMID: 20806047.
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
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with aniridia and their unaffected relatives.
Consent form: Help
Not provided
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
RT-qPCR
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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