Sektionen
Marfan syndrome, EDS and other connective tissue disorders
You are here: Home / Diagnostics / Multi-gene panel diagnostics / Marfan syndrome, EDS and other connective tissue disorders

Marfan syndrome, EDS and other connective tissue disorders

For any questions regarding clinical issues, please get in contact with Prof. Dr. C. Netzer, MD (+49-221-478-89586, [Email protection active, please enable JavaScript.]). The panel diagnostics request form for Marfan syndrome, EDS and other connective tissue disorders is available here.

 

Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, genes associated with aortic dilatation

standard panel (#010): Marfan syndrome and type 1 fibrillinopathies
FBN1*; TGFBR1*, TGFBR2*
(3 genes, 11.83 kb)

 

standard panel (#142): Thoracic aortic dilatation and dissection, genes according to German EBM
ACTA2, C1R, CBS, COL1A1*, COL1A2*, COL3A1*, COL4A5*, COL5A1, COL5A2, EFEMP2, ELN, FBN1*, FBN2, FKBP14, FLNA, GATA5, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1*, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1*, TGFBR2*, ZNF469
(32 genes, 101.4 kb)

 

complete panel (#143): Connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes) according to NCBI Genereviews, clinical utility gene cards
ACTA2, ADAMTS2, B3GALT6, B4GALT7, C1R,C1S, CBS, CHST14, COL1A1*, COL1A2*, COL3A1*, COL4A5*, COL5A1, COL5A2, COL12A1, DSE, EFEMP2, ELN, FBN1*, FBN2, FKBP14, FLNA, GATA5, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1*, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1*, TGFBR2*, TNXB, ZNF469
(42 genes, 149.79 kb)

 

complete panel (#144): Ehlers-Danlos syndrome, genes according to clinical utility gene card, EDS type I-IV
ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CBS, CHST14, COL1A1*, COL1A2*, COL3A1*, COL5A1, COL5A2, COL12A1, DSE, EFEMP2, ELN, FKBP14, FLNA, PLOD1*, PRDM5, SLC2A10, SLC39A13, TNXB, ZNF469
(24 genes, 91.13 kb)

 

standard panel (#014): Ehlers-Danlos syndrome, main genes according to NCBI Genereviews, 2017 International Classification of the EDS
ADAMTS2, COL1A2*, COL3A1*, 1. COL5A1, COL5A2, FKBP14, PLOD1
(7 genes, 24.98 kb)
 
standard panel (#015): Ehlers-Danlos syndrome, dominant
COL1A1*, COL1A2*, COL3A1*, 1. COL5A1, COL5A2
(5 genes, 22.9 kb)
 
standard panel (#016): Ehlers-Danlos syndrome, recessive
ADAMTS2, B3GALT6, B4GALT7, CBS, CHST14, COL1A2*, DSE, EFEMP2, FKBP14, PLOD1, SLC2A10, SLC39A13
(12 genes, 22.2 kb)
 
single gene diagnostics:
ACTA2, COL3A1*, MYH11, TGFB2, CBS, COL4A5*, MYLK, TGFBR1*, COL1A1*, FBN1*, SMAD3, TGFBR2*, COL1A2*