Invitae Nuclear Mitochondrial Disorders 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.: GTR000593425.1
Last updated: 2023-10-10
Test version history
- 593425.1, last updated: 2023-10-10

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 Mitochondrial complex 1 deficiency, nuclear type 33
Offered by Invitae

Indication

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

Check Clinical features section (below), Conditions for which test is offered (above), and links on the right for additional information about this condition.

Imported from Human Phenotype Ontology (HPO)

Lactic acidosis
Apnea
Bronchiectasis
Dysphagia
Dysarthria
Fetal growth restriction
Hypoglycemia
Spasticity
Mutism
Optic atrophy
Aspiration pneumonia
Respiratory insufficiency
Seizure
Status epilepticus
Oligohydramnios
Encephalopathy
Metabolic acidosis
Feeding difficulties
Small for gestational age
Cerebellar hypoplasia
Global developmental delay
Hypospadias
Neutropenia
Increased CSF lactate
Increased serum lactate
Loss of ambulation
Poor speech
Axial hypotonia
Progressive neurologic deterioration
Generalized hypotonia
Decreased activity of mitochondrial complex I
Irritability
Simplified gyral pattern
Motor regression
Ventriculomegaly
Craniofacial dystonia
Sparse hair
Hyperammonemia
Reduced cerebral white matter volume

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Conditions tested

The Invitae Nuclear Mitochondrial Disorders Panel analyzes nuclear-encoded genes that are associated with mitochondrial dysfunction, including but not limited to deficiencies of oxidative phosphorylation, deficiencies of mitochondrial complexes, primary coenzyme Q10 deficiency, and multiple mitochondrial dysfunction syndromes. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions.

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.

Invitae Nuclear Mitochondrial Disorders Panel

Indication

Clinical summary

Clinical features