This test analyzes genes associated with Marfan syndrome and thoracic aortic aneurysm and dissection (TAAD).
Test Code | D4110F |
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Test Summary |
This test analyzes genes associated with Marfan syndrome and thoracic aortic aneurysm and dissection (TAAD). |
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 |
Marfan syndrome is a genetic connective tissue disorder that affects various systems in the body. Skeletal phenotypes in indiiduals with Marfan syndrome include tall stature, long limbs, joint hypermobility, and a disproportionately long and narrow face, high-arched palate, scoliosis, and a chest that may protrude or indent, known as pectus excavatum or pectus carinatum. Ocular Abnormalities include myopia, increased risk of retinal detachment, and ectopia lentis, which can cause blurry vision or other visual disturbances. The most serious complications of Marfan syndrome are cardiovascular and include aortic root dilation, dissection, or aortic rupture, mitral valve prolapse, aortic valve regurgitation, and cardiomegaly. Some individuals with Marfan syndrome may experience spontaneous pneumothorax or sleep apnea.
Thoracic aortic aneurysm and dissection (TAAD) encompasses two related but distinct pathological processes. Aortic aneurysm is a dilation or bulge in the arterial wall, which may be asymptomatic or, depending on the size and location, cause symptoms such as chest or back pain, shortness of breath, coughing, hoarseness, and difficulty swallowing. Aortic dissection is a tear or rupture in the inner layer of the aortic wall that allows blood to enter and separate the layers of the vessel. This can lead to the formation of a false lumen within the aorta, compromising blood flow and causing severe pain. Familial TAAD can be caused by an underlying syndromic genetic condition such as Marfan syndrome, Ehlers-Danlos syndrome, or Loeys-Dietz syndrome.
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. |
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.
We are here to answer your questions.