Test Code | D5218 |
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Test Summary |
This test analyzes genes associated with limb-girdle muscular dystrophy. |
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** | 81479(x1), 81443(x1) |
Limb-girdle muscular dystrophy (LGMD) is a group of genetic neuromuscular disorders characterized by progressive weakness and wasting of the muscles in the shoulder and hip girdles. LGMD affects both males and females and can manifest at any age, from childhood to adulthood. Clinical features of limb-girdle muscular dystrophy include symmetric, proximal muscle weakness, including the muscles of the shoulders, upper arms, hips, and thighs. As the disease progresses, weakness may also involve muscles in the lower legs and forearms. Muscle weakness in the lower limbs can result in gait abnormalities, such as waddling or difficulty walking on tiptoes. Individuals may also experience frequent falls or have difficulty standing up from a seated position. In some cases, LGMD can affect the respiratory muscles, leading to respiratory insufficiency and the need for ventilatory support. Cardiac involvement may also occur, including cardiomyopathy and arrhythmias.
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. |