Neuromuscular 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.: GTR000597604.1
Last updated: 2022-11-01
Annual Review past due read more
Test version history
- 597604.1, last updated: 2022-11-01

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 Leukoencephalopathy, hereditary diffuse, with spheroids 2
Offered by Centogene AG - the Rare Disease Company

Indication

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

Imported from OMIM

Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by Sundal et al., 2012). For a discussion of genetic heterogeneity of HDLS, see HDLS1 (221820).

Imported from Human Phenotype Ontology (HPO)

Cheyne-Stokes respiration
Dystonic disorder
Hemianopia
Rigidity
Grasp reflex
Mental deterioration
Personality changes
Sensory ataxia
Leukoencephalopathy
Difficulty walking
Dementia
Vegetative state

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Conditions tested

Not provided

This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.

Neuromuscular Panel

Indication

Clinical summary

Imported from OMIM

Clinical features