Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic, Therapeutic management
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with an nonbullous erythrodermic form of ichthyosis, with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al., 2001).
- Alopecia
- Cerebellar ataxia
- Ectropion
- Sensorineural hearing impairment
- Hepatomegaly
- Myopathy
- Nystagmus
- Strabismus
- Congenital nonbullous ichthyosiform erythroderma
- Muscle weakness
- Microtia
- Subcapsular cataract
- Abnormality of blood and blood-forming tissues
- Everted lower lip vermilion
- Hepatic steatosis
- Intellectual disability
Show allThe Invitae Rhabdomyolysis and Metabolic Myopathy Panel analyzes genes that are associated with rhabdomyolysis, metabolic myopathy, mitochondrial disorders, and related hereditary conditions. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date to provide analysis for rhabdomyolysis or metabolic myopathy. Given the clinical overlap of rhabdomyolysis and metabolic myopathy, broad panel testing allows for an efficient evaluation of many potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated conditions, which are not included in the list of conditions tested. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
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