FBN1 Full Gene Sequencing with Deletion/Duplication, Varies
Use
This test is used for providing a genetic evaluation for individuals with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions. It helps in establishing a diagnosis for Marfan syndrome and related conditions by detecting single nucleotide and copy number variants in the FBN1 gene. Identification of disease-causing variants may aid in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Marfan syndrome or other FBN1-related conditions.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. There are technical limitations, including regions of homology, high guanine-cytosine content, and repetitive sequences which may not be effectively evaluated. The test is validated to detect 95% of deletions up to 75 base pairs and insertions up to 47 bp; larger deletions-insertions may be less reliably detected. The test is not designed to detect low levels of mosaicism or to differentiate between somatic and germline variants. Balanced structural rearrangements like translocations and inversions will not be detected. False-negative or false-positive results may occur. Depth of coverage varies for some target regions; assay performance below the minimum acceptable criteria or for failed regions will be noted.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
FBN1
Gene
LOINC Codes
- 77114-7 - FBN1 gene Full Mut Anl Bld/T Seq
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for patients with a history of bone marrow transplant.
Storage Instructions
Ambient (preferred)/Refrigerated
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.