FBN1 (Marfan Syndrome) Single Gene Analysis

Casandra

Casandra Test Code LC17947Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 482336CPT Code 81408

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

In cases in which there is a known variant documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208]. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

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

Result Codes

19102-3
42784-9
31208-2
89993-0
42349-1
77114-7
53039-4
8262-8
62385-0
55752-0
8251-1
49549-9
75608-0
72486-4
51969-4

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.