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Comitant strabismus, hereditary
Research Genetic test
Help
offered by
Engle Laboratory
GTR Test Accession: Help GTR000505121.5
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY
Last updated in GTR: 2024-05-10
View version history
Last annual review date for the lab: 2024-05-16 LinkOut
At a Glance
Conditions (1): Help
Strabismus, susceptibility to
Chromosomal regions/ Mitochondria (1): Help
Human genome
Study description: Help
Laboratory is enrolling for genetic research studies. Participation in the …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals diagnosed with the condition and close biological relatives are …
Methods (2): Help
Molecular Genetics - Linkage analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Study Description
Name: Help
Comitant strabismus, hereditary
Study short name: Help
Comitant strabismus, hereditary
Protocol number: Help
05-03-036R
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Laboratory is enrolling for genetic research studies. Participation in the research study is available at no charge and enrollment (involves screening, consenting and sampling) can be arranged remotely without travel to Boston.
Study type: Help
Not applicable
Offered by: Help
Engle Laboratory
Person responsible for the study: Help
Elizabeth Engle, MD, ABPN, FAAN, Lab Director
Study contact: Help
Elizabeth Engle, MD, ABPN, FAAN, Lab Director
Research contact policy: Help
Contacts by phone or email from patients, families, healthcare providers and researchers are welcome.
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals diagnosed with the condition and close biological relatives are invited to enroll. We must enroll at least two relatives with the diagnosis to informatively study the individual/ family for this condition. Enrollment of the individual(s) with the diagnosis and both biological parents is optimal and encouraged, but not required … View more
Recruiting sites: Help
Boston Children's Hospital
Consent form: Help
Not provided
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Linkage analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Technical Information
Test Platform:
Illumina Infinium HD HumanCytoSNP-12
Recommended fields not provided:
Test Confirmation
Additional Information
Consumer resources:

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