Bio Spec Overview
Ignite Creation Date:
2025-12-25 @ 1:05 AM
Last Modification Date:
2025-12-25 @ 1:05 AM
Retention:
SAMPLES_WITH_DNA
Description:
Blood and saliva for DNA extraction to use in genetic testing of children and adults with EDS and their relatives will be collected. Medical records from other institutions and notes from visits in Dr. Holick's clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that support these diagnoses. Subjects' peripheral vein blood, saliva and pictures will be taken. A clinical evaluation will be performed to document clinical signs for EDS. No clinical interventions will be performed. No patients' identifiers will be reported.
Section:
Blood and saliva for DNA extraction to use in genetic testing of children and adults with EDS and their relatives will be collected. Medical records from other institutions and notes from visits in Dr. Holick's clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that support these diagnoses. Subjects' peripheral vein blood, saliva and pictures will be taken. A clinical evaluation will be performed to document clinical signs for EDS. No clinical interventions will be performed. No patients' identifiers will be reported.