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Aortopathy Deletion/Duplication, 21 Genes

CPT Code(s): 81411
Specimen Required: Patient Preparation:
Collect: Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature: Refrigerated.
Stability: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: This test is New York DOH approved.
Aliases:
  • 2002701 Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing & Deletion/Duplication
  • 2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication
  • 2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
  • ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK
  • PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
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