MarfanTAAD Seq MarfanTAAD

Synonyms

Allscripts (AEHR) Order Name

Marfan Syndrome/TAAD sequencing del/dup

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Order Name

MarfanTAAD Sequencing Panel

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 Type

Blood

Container

Lavender Top Tube

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 Laboratory

GeneDx

CPT

81410
81411

PDM

1659850

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