Heterotopia, periventricular, 300049, X-linked dominant (Nodular neuronal heterotopia) (MLPA)

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.: GTR000583301.1
Last updated: 2022-05-14
Annual Review past due read more
Test version history
- 583301.1, last updated: 2022-05-14

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 Heterotopia, periventricular, X-linked dominant
Offered by Intergen

Indication

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

Imported from GeneReviews

FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.

Imported from Human Phenotype Ontology (HPO)

Abnormality of the coagulation cascade
Patent ductus arteriosus
Intellectual disability, mild
Seizure
Strabismus
Stroke
Syndactyly
Bicuspid aortic valve
Recurrent infections
Cerebellar hypoplasia
Gray matter heterotopia
Bone marrow maturation arrest
Hypoplasia of the corpus callosum
Abnormality of neuronal migration
Short finger
Cerebral hemorrhage
Clinodactyly
Thin corpus callosum

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Conditions tested

Heterotopia, periventricular, 300049, X-linked dominant (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Heterotopia, periventricular, 300049, X-linked dominant (Nodular neuronal heterotopia) (MLPA)

Indication

Clinical summary

Imported from GeneReviews

Clinical features