Test Code: PNL091

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 (70 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
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.