FBN1 (Marfan Syndrome) Single Gene Analysis

Clinical Use

Order Test

Use

This test is used for diagnostic testing for Marfan syndrome and presymptomatic testing for family members.

Special Instructions

Not provided.

Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test. Additionally, variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

Test Details

Methodology

NGS (Targeted)

Biomarkers

FBN1

Gene

SNV/Indel

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

77114-7 - FBN1 gene Full Mut Anl Bld/T Seq

Result Codes

19102-3 - Genetic scn Spec
42784-9 - Ethnic Background Stated
31208-2 - Specimen source
89993-0 - Clinical genetics Counseling note
42349-1
77114-7 - FBN1 gene Full Mut Anl Bld/T Seq
53039-4 - Gene dis anl carrier interp-Imp
8262-8 - Service Cmnt 02-Imp
62385-0 - Recommendation Patient Doc-Imp
55752-0 - Clinical info
8251-1 - Service Cmnt-Imp
49549-9 - Ref lab test method
75608-0 - Citation Ref Lab Test
72486-4 - Lab director name Provider
51969-4 - Gene analysis narr rpt Doc

Result Turnaround Time

14-21 days

Specimen

Whole Blood

Volume

8.5 mL

Minimum Volume

3 mL

Container

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube

Collection Instructions

Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.