This test analyzes genes associated with spastic paraplegia.
Test Code | D4011F |
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Test Summary |
This test analyzes genes associated with spastic paraplegia. |
Turn Around Time | 7 - 10 days |
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** | 81479(x1), 81443(x1) |
Self (patient) Price | $900.00 |
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Institutional Price | $1,350.00 |
Spastic paraplegia refers to a group of neurological disorders characterized by progressive weakness and spasticity in the muscles of the lower extremities. This condition primarily affects the ability to walk and can result in varying degrees of disability. Individuals with spastic paraplegia experience progressive weakness in the muscles of the lower limbs, leading to difficulties with walking, climbing stairs, and maintaining balance. The weakness typically begins insidiously and worsens over time. Spasticity refers to increased muscle tone and stiffness, which can cause muscles to become rigid and resistant to movement, leading to difficulty with voluntary movements. Spastic paraplegia often results in changes to the individual's gait, including a stiff-legged or "scissored" gait, where the legs cross over each other with each step. Walking may become slower, more laborious, and less coordinated as the condition progresses. While spasticity and weakness primarily affect the muscles of the lower limbs, individuals with spastic paraplegia may also experience involvement of the upper limbs, although to a lesser extent. Some individuals with spastic paraplegia may experience sensory changes, such as numbness, tingling, or loss of sensation in the lower extremities. These sensory changes may be secondary to compression of nerves or other neurological abnormalities. Spastic paraplegia can also lead to urinary and bowel dysfunction, including urinary urgency, frequency, and incontinence, as well as constipation and difficulty with bowel movements. The progression of spastic paraplegia can vary widely among affected individuals and between different genetic subtypes. While some individuals may experience relatively slow progression and maintain functional independence for many years, others may experience more rapid deterioration and significant disability.
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. |
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. |
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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