Home › Test Directory › CardioVascular Genetics › Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & Arterial tortuosity syndrome (70 Genes)
Test Code: PNL091

Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & Arterial tortuosity syndrome (70 Genes)

CardioVascular Genetics
This panel analyses key genes associated with heritable connective tissue and aortopathy disorders, including Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm/Dissection, and Arterial Tortuosity Syndrome. Pathogenic variants in these genes can predispose individuals to vascular fragility, arterial aneurysm and dissection, and systemic connective tissue manifestations. Testing supports early diagnosis, risk stratification, and family screening, enabling timely surveillance and management of cardiovascular complications.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

70 genes
ABCC6 ACTA2 ADAMTS2 ADAMTSL2 AEBP1 ALDH18A1 ATP6AP1 ATP6V1A ATP6V1E1 ATP6V0A2 ATP7A B3GALT6 B3GAT3 B4GALT7 BGN C1R C1S CBS CHST3 CHST14 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL11A1 COL6A2 COL6A3 CRTAP DLG4 DSE EFEMP1 EFEMP2 ELN EMILIN1 FBLN5 FBN1 FBN2 FKBP14 FLNA FLNB GGCX GORAB LOX LTBP4 LZTS1 MED12 MOCS1 MYH11 MYLK P3H1 PLOD1 PLP1 PRDM5 PYCR1 RIN2 ROBO3 SKI SLC2A10 SLC39A13 SMAD2 SMAD3 SPARC TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ZNF469

Methodology

Capture-based target enrichment and Next Generation Sequencing
Test Actions
Specifications
  • Test Code PNL091
  • Category CardioVascular Genetics
  • Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
  • TAT 3 weeks days
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 70 genes analyzed
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