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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.