MarfanTAAD Sequencing Panel

Synonyms

  • LAB11561
  • MARFANTAAD SEQ

Cerner Name

MarfanTAAD Seq

Clinical Info

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.
Test code 883

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

2 - 5 mL whole blood

Container

Lavender Top Tube or Buccal (Oral Cheek Swab)

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Deletion/Duplication Analysis
Next-Gen Sequencing

Days Performed

TAT: 4 Weeks

Performing Laboratories

GeneDx

CPT

81410
81411

PDM

1659850

Results
Component Name Base Name Common Name External Name
MARFAN/TAAD SEQ + DEL/DUP PANEL MARTADELDUP MARFAN TAAD SEQ, DEL DUP PANEL Marfan/TAAD Seq + Del/Dup Panel

Result Interpretation

See Report
 
Includes Genes:
  ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, LOX, MAT2A, MED12, MFAP5 , MYH11, MYLK , NOTCH1, PRKG1 , SKI, SLC2A2, SLC2A10, SMAD3, SMAD4, TGFB3, TGFBR1, TGFBR2

Forms
Molecular-send outs LAB11561 build edit