| Interpretive Data: |
Background information for Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication:
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 characteristic 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 for sequencing, unknown for deletion/duplication analysis.
Methodology: Bidirectional sequencing of the entire FBN1 coding region and intron-exon boundaries. Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large FBN1 coding region deletions/duplications.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Regulatory region mutations and deep intronic mutations will not be detected. Large deletions/duplications of exons 11, 12, 21, 23, 28, 33, 38, 40, 49, 52, 60, and 62 will not be detected. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than FBN1 are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x62 Amplification; 83904 x62 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. Del/Dup: 83896 x65 Nucleic acid probes; 83898 x65 Amplification; 83914 x65 Extension; 83909 Capillary Electrophoresis -Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
FBN1 Sequencing and Deletion/Duplication (Marfan Syndrome, FBN1 Sequencing and Deletion/Duplication)
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