|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
TWINKLE (PEO1/C10orf2) DNA Sequencing Test (related to mtDNA depletion)
Test Code38375
CPT Codes
81404<br /> Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL
Pediatric (0-3 years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years may have higher WBC, yielding more DNA per mL of blood.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years may have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 14-28 days
Report Available
28 Days
Reference Range
No mutation detected
Clinical Significance
Identifies mutations in the TWINKLE (PEO1/C10orf2) gene related to mitochondrial DNA depletion
Typical Presentation: Mitochondrial disease is a clinically heterogeneous group of multisystem disorders characterized by muscle weakness and wasting caused by mutations of nuclear or mitochondrial DNA. PEO phenotype, including features such as ptosis, ophthalmoplegia, hearing loss, sensory axonal neuropathy, and severe hepatocerebral phenotype characterized by neonatal hypotonia, mild liver insufficiency, increased serum and CSF lactate, psychomotor retardation, seizures, and peripheral neuropathyproximal muscle weakness. Twinkle (PEO1/C10orf2) is also associated with abnormal gait, dysphagia, dysphonia, and late-onset dementia the seventh or eighth decade. Other symptoms have been cited in the literature such as myopathy, usually described as limb-girdle, polyneuropathy, brainstem symptoms, depression, and parkinsonism or tremors, with less frequent features including diabetes mellitus, ataxia, cataract, memory loss, hearing loss, and cardiac problems.
Indications for testing: Symptomatic individuals consistent with hepatoencephalopathic forms of mitochondrial disease.
Typical Presentation: Mitochondrial disease is a clinically heterogeneous group of multisystem disorders characterized by muscle weakness and wasting caused by mutations of nuclear or mitochondrial DNA. PEO phenotype, including features such as ptosis, ophthalmoplegia, hearing loss, sensory axonal neuropathy, and severe hepatocerebral phenotype characterized by neonatal hypotonia, mild liver insufficiency, increased serum and CSF lactate, psychomotor retardation, seizures, and peripheral neuropathyproximal muscle weakness. Twinkle (PEO1/C10orf2) is also associated with abnormal gait, dysphagia, dysphonia, and late-onset dementia the seventh or eighth decade. Other symptoms have been cited in the literature such as myopathy, usually described as limb-girdle, polyneuropathy, brainstem symptoms, depression, and parkinsonism or tremors, with less frequent features including diabetes mellitus, ataxia, cataract, memory loss, hearing loss, and cardiac problems.
Indications for testing: Symptomatic individuals consistent with hepatoencephalopathic forms of mitochondrial disease.
