Test Code | D4010 |
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Test Summary |
This test analyzes genes associated with myoclonic dystonia. |
Turn Around Time | 2 - 3 weeks |
Acceptable Sample Types | DNA, Isolated , Dried Blood Spots , Saliva , Whole Blood (EDTA) |
Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
NY Approved | No |
CPT Codes** | 81404(x1), 81405(x1), 81406(x1) |
Myoclonic dystonia (MD) is a rare movement disorder characterized by a combination of myoclonic jerks and dystonia. MD typically manifests during childhood or adolescence and can vary widely in severity and presentation among affected individuals. Myoclonic jerks are sudden, brief, shock-like movements that can affect various parts of the body, including the arms, legs, trunk, and face. These jerks may occur spontaneously or may be triggered by specific actions, emotions, or environmental stimuli. Dystonia is characterized by sustained muscle contractions that cause abnormal postures, twisting movements, or repetitive involuntary movements. Dystonia in myoclonic dystonia often affects the neck, trunk, and limbs and may be focal or generalized. In addition to motor symptoms, individuals with myoclonic dystonia may experience non-motor symptoms such as tremor, psychiatric symptoms (such as anxiety or depression), and cognitive impairment, although cognitive function is typically preserved in most cases. Myoclonic dystonia is a progressive disorder, with symptoms typically worsening over time, although the rate of progression can vary among individuals. In some cases, symptoms may stabilize or improve with age.
Collection Container(s) | Oragene™ Saliva Collection Kit or ORAcollect-Dx kit |
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Collection | Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer's instructions. |
Sample Condition | Store at ambient temperature. Do not refrigerate or freeze. |
Shipping | Ship overnight at ambient temperature. |
Special Sample Instructions | Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample. Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information. |
Collection Container(s) | Dried blood spot card |
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Collection | Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
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Sample Condition | Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer. |
Shipping | Follow kit instructions. Double bag and ship overnight at ambient temperature. |
Collection | Required DNA Quantity by Test Type*:
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Sample Condition | * Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met. |
Shipping | Ship overnight at ambient temperature. |
Special Sample Instructions |
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Collection Container(s) | EDTA (purple top) |
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Collection | Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation. |
Sample Condition | Store at ambient temperature. Do not refrigerate or freeze. |
Shipping | Ship overnight at ambient temperature ensuring receipt within 5-days of collection. |
Special Sample Instructions | Clotted or hemolyzed samples are not accepted. |