Non-Immune Hydrops Fetalis 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.: GTR000592255.1
Last updated: 2023-06-19
Test version history
- 592255.1, last updated: 2023-06-19

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 Acyl-CoA dehydrogenase 9 deficiency
Offered by PreventionGenetics

Indication

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

Imported from OMIM

MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by Haack et al., 2010). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.

Imported from Human Phenotype Ontology (HPO)

Lactic acidosis
Cerebral edema
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Congestive heart failure
Hypoglycemia
Hypotonia
Stroke
Thrombocytopenia
Encephalopathy
Hepatic failure
Muscle weakness
Exercise intolerance
Elevated hepatic transaminase
Microvesicular hepatic steatosis
Dicarboxylic aciduria
Generalized hypotonia
Decreased activity of mitochondrial complex I

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Conditions tested

Candidates for testing include individuals with a suspected or clinical diagnosis of non-immune hydrops fetalis. This includes individuals with ultrasound findings of ascites, pleural effusion, pericardial effusion, or edema in which red cell alloimmunization has been ruled out.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Non-Immune Hydrops Fetalis Panel

Indication

Clinical summary

Imported from OMIM

Clinical features