Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
Also known as: FBN1 NGS
Use
The Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication test is used to confirm a diagnosis of Marfan syndrome in individuals who meet clinical criteria for the condition. Marfan syndrome is a connective tissue disorder with significant variability in clinical presentation, including manifestations in the ocular, skeletal, and cardiovascular systems. It is caused by pathogenic germline variants in the FBN1 gene with autosomal dominant inheritance. This test has a high clinical sensitivity for detecting such variants, making it essential for diagnosing Marfan syndrome and related connective tissue disorders.
Special Instructions
New York state approval is pending. Specimens from New York clients will be sent to a New York state-approved laboratory. Genetic counseling and informed consent are recommended for genetic testing.
Limitations
This test does not exclude a diagnosis of Marfan syndrome or other FBN1-related disorders if the results are negative. It detects variants within the coding regions and intron-exon boundaries of the FBN1 gene only. The test is not designed to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions. Diagnostic errors can occur due to rare sequence variations and technical limitations such as the presence of pseudogenes, repetitive, or homologous regions.
Methodology
NGS
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Collection Instructions
Transport 3 mL whole blood. (Min: 2 mL)
Storage Instructions
Refrigerated
Causes for Rejection
Unacceptable conditions include serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |