Test ID: ZH355
CPT code: 81408
LOINC:
Specimen Type: Yellow-top (ACD) tube OR Lav (EDTA) tube
Frequency: 35 – 56 days
Instructions: 10 mL Whole Blood from Yellow-top (ACD) tube OR Lav (EDTA) tube, Ambient. Min 3 mL.
Text: Confirm a clinical diagnosis of MFS; identify presymptomatic family members, guide prophylactic measures. Marfan syndrome is a dominantly inherited systemic connective tissue disorder characterized by multiple abnormalities of the skeletal,ocular, cardiovascular, pulmonary,skin, & nervous systems. At least 90% of MFS are associated with mutations in FBN1.
Methodology: Agilent Sure Select XT enrichment method and the Illumina next-generation sequencing platform.