Test Code MarfanTAAD Seq Marfan Syndrome/TAAD sequencing del/dup
Performing Laboratory
BioReference- GeneDx
Methodology
Exon Array CGH|Next-gen Sequencing
Reference Values
See Report
Includes Genes:
ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MAT2A, MED12, MFAP5 , MYH11, MYLK , NOTCH1, PRKG1 , SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Physician Office Specimen Requirements
Container/Tube: Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature
Computer Interface Code
PDM # 1659850
CPT Coding
81410
81411
Used For
- Confirmation of clinical diagnosis in symptomatic patients
- Risk assessment of asymptomatic family members of a proband with TAAD
- Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders.