Ordering Recommendation

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

FBN1 NGS

Methodology

Massively Parallel Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: FBN1

Hotline History

N/A

CPT Codes

81408, 81479

Components

Component Test Code* Component Chart Name LOINC
3004103 Marfan Syndrome (FBN1) Specimen
3004104 Marfan Syndrome (FBN1) Interpretation
* 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

Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication