Marfan syndrome and Loeys-Dietz syndrome NGS panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000592100.1
Last updated: 2020-11-30
Test version history
- 592100.1, last updated: 2020-11-30

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Loeys-Dietz syndrome 1
Offered by HNL Genomics Connective Tissue Gene Tests

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation

Imported from GeneReviews

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

Imported from Human Phenotype Ontology (HPO)

Arachnodactyly
Chiari malformation
Talipes equinovarus
Craniosynostosis syndrome
Patent ductus arteriosus
Proptosis
Exotropia
Atrial septal defect
Hydrocephalus
Hypertelorism
Micrognathia
Mitral valve prolapse
Retrognathia
Scoliosis
Joint laxity
Bicuspid aortic valve
Pulmonary artery aneurysm
Bicuspid pulmonary valve
Dilatation of the ductus arteriosus
Cervical spine instability
Postaxial hand polydactyly
Blue sclerae
Global developmental delay
Camptodactyly
Aortic root aneurysm
Descending thoracic aorta aneurysm
Dermal translucency
Ascending aortic dissection
Disproportionate tall stature
Soft skin
Malar flattening
Abnormal sternum morphology
Cleft palate
Arterial tortuosity
Intellectual disability
Dilatation of the cerebral artery
Bifid uvula
Eosinophilic infiltration of the esophagus

Show all

Conditions tested

Individuals whose clinical findings are consistent with the specific disorder.

Citations

Not provided

Reviews

Clinical resources

Practice guidelines

EuroGenetest, 2011
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

Molecular resources

Consumer resources

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Marfan syndrome and Loeys-Dietz syndrome NGS panel

Indication

Clinical summary

Imported from GeneReviews

Clinical features