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Aortic / connective tissue diseases (extended panel): gene panel

Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Angiology and Vascular Surgery, Cardiothoracic Surgery, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM

Gene Number

115

Test / Mutation List

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ALPL, ARHGAP31, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BGN, BMP1, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CREB3L1, CRTAP, DCC, DLL4, DOCK6, DSE, EFEMP2, ELN, EOGT, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLCN, FLNA, FOXE3, GAA, GGCX, GORAB, GYPC, HRAS, IFITM5, KCNJ8, KIF22, LOX, LRP5, LTBP2, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, P3H1, PIEZO2, PLOD1, PLOD2, PLOD3, PLS3, PPIB, PRDM5, PRKG1, PTPN11, PYCR1, RBPJ, RIN2, ROBO3, SERPINF1, SERPINH1, SGMS2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SP7, SPARC, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM38B, TNXB, TPSAB1, WNT1, ZNF469

TAT

4 to 5 weeks

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated

For other samples types, please contact the laboratory.