Recommendations when to order or not order the test. May include related or preferred tests.
Preferred test to confirm a diagnosis of Marfan syndrome (MFS) in an individual who meets clinical criteria. If clinical criteria for MFS are not met and the phenotype is one of aortic or vascular aneurysm, dissection, or rupture, refer to Aortopathy Panel, Sequencing and Deletion/Duplication (2006540) instead.
Mnemonic
Unique test identifier.
FBN1 NGS
Methodology
Process(es) used to perform the test.
Massively Parallel Sequencing
Performed
Days of the week the test is performed.
Varies
Reported
Expected turnaround time for a result, beginning when ARUP has received the specimen.
Within 21 days
New York DOH Approval Status
Indicates test has been approved by the New York State Department of Health.
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)
Storage/Transport Temperature
Refrigerated
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Normal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive Data
Background information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Other names that describe the test. Synonyms.
Marfan's Syndrome
Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
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