Invitae Comprehensive Deafness 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.: GTR000593052.3
Last updated: 2023-10-10
Test version history
- 593052.3, last updated: 2023-10-10
- 593052.2, last updated: 2021-12-05
- 593052.1, last updated: 2021-10-12

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 PHARC syndrome
Offered by Invitae

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Pre-symptomatic, Therapeutic management, Diagnosis

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. [from ORDO]

Imported from Human Phenotype Ontology (HPO)

Cerebellar ataxia
Dysarthria
Sensorineural hearing impairment
Spasticity
Nystagmus
Optic atrophy
Babinski sign
Cataract
Hyperreflexia
Dysmetria
Subcapsular cataract
Demyelinating peripheral neuropathy
Achilles tendon contracture
Hyporeflexia
Pes cavus
Cerebellar atrophy
Sensorimotor neuropathy
Distal sensory impairment
Distal amyotrophy
Decreased nerve conduction velocity
Intention tremor
Rod-cone dystrophy

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Conditions tested

Genetic testing for genes associated with syndromic and non-syndromic deafness. These are genetically heterogeneous disorders characterized by mild to profound deafness in early adulthood, childhood, or infancy. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling. Some genes in this test may be associated with additional disorders unrelated to this panel; such additional conditions are not included in the list of disorders tested.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Invitae Comprehensive Deafness Panel

Indication

Clinical summary

Clinical features