Ordering Recommendation

Acceptable test to confirm diagnosis for individuals with clinical phenotype of Marfan syndrome.

Mnemonic
FBN1 FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

21-28 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

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

Reference Interval
Interpretive Data

Background information for Marfan Syndrome, FBN1 Sequencing:
Characteristics:
Aortic root dilatation/dissection, ectopia lentis,  positive wrist and/or thumb sign, pectus carinatum or excavatum, hindfoot deformity, pneumothorax,  dural ectasia, acetabular protrusion, scoliosis or thoracolumbar kyphosis, reduced upper/lower segment ratio and increased arm/height ratio in persons without severe scoliosis, reduced elbow extension, skin striae, myopia, mitral valve prolapse, and specific facial features.
Prevalence: 1 in 5,000 - 1 in 10,000.
Inheritance: Autosomal dominant.
Penetrance: 100 percent, age-dependent.
Cause: Pathogenic FBN1 gene mutations.
Clinical Sensitivity: 70-93 percent.
Methodology: Bidirectional sequencing of the entire FBN1 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations and large deletions/duplications will not be detected. Mutations in genes other than FBN1 are not evaluated.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81408

Components
Component Test Code* Component Chart Name LOINC
2005590 Marfan Syndrome (FBN1) Seq Specimen
2005591 Marfan Syndrome (FBN1) Seq Interp 77114-7
* 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
  • FBN1 genetic
  • FBN1 Sequencing
  • FBN1 sequencing and deletion/duplication assay
Marfan Syndrome, FBN1 Sequencing