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Ethylmalonic Encephalopathy
Ethylmalonic encephalopathy (EE) is a rare metabolic disorder characterized by psychomotor regression and generalized hypotonia, which progresses into spastic tetraparesis, dystonia and global neurological failure. MRI shows necrotic lesions in the basal ganglia and brainstem. The encephalopathy is typically accompanied by petechia and orthostatic acrocyanosis. Chronic diarrhea is also common. Most patients with EE have [...]
+ Mutation-specific testing + Prenatal testingEthylmalonic encephalopathy (EE) is a rare metabolic disorder characterized by psychomotor regression and generalized hypotonia, which progresses into spastic tetraparesis, dystonia and global neurological failure. MRI shows necrotic lesions in the basal ganglia and brainstem. The encephalopathy is typically accompanied by petechia and orthostatic acrocyanosis. Chronic diarrhea is also common. Most patients with EE have been from the Mediterranean basin or Arabic peninsula.
+ Mutation-specific testing + Prenatal testingTests Available
ETHE1 Gene Sequencing & Del/Dup
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- ETHE1
- Clinical Utility:
-
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Lab Method:
- Capillary Sequencing, Exon Array CGH
ORDERING
- Test Code:
- 558
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1, 88271x10, 88291x1
- List Price:
- $1,260.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 348.3: Encephalopathy, not elsewhere classified
REFERENCES
- Mineri et al., (2008) J Med Genet 45:473-478.
- Tiranti et al., (2006) J Med Genet 43:340-346.
- Tiranti et al., (2009) Nature Med 15:200-205.
