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Marcus Gunn Phenomenon-Marcus Gunn Jaw Winking Syndrome
Research Genetic test
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offered by
Engle Laboratory
View lab's test page
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GTR Test Accession: Help GTR000250416.4
INHERITED DISEASEOPHTHALMOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2024-05-10
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Last annual review date for the lab: 2024-05-16 LinkOut
At a Glance
Conditions (1): Help
Jaw-winking syndrome
Chromosomal regions/ Mitochondria (1): Help
Human genome
Study description: Help
Laboratory is enrolling for genetic research studies to identify and …
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
Marcus Gunn Phenomenon
Study short name: Help
MGJWS
Protocol number: Help
05-03-036R
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Laboratory is enrolling for genetic research studies to identify and characterize novel genes associated with the condition. 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 one person with the diagnosis to informatively study the individual/ family. Enrollment of the individual with the diagnosis and both biological parents is optimal and encouraged, but not required for participation.
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 Procedure: Help
For individuals opting to receive research results, findings must be confirmed on a new sample in a diagnostic, CLIA authorized laboratory.
Test Platform:
Illumina Infinium HD HumanCytoSNP-12
Test Confirmation: Help
For individuals opting to receive research results, findings must be confirmed on a new sample in a diagnostic, CLIA authorized laboratory.
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.