Marfan syndrome, EDS & other connective tissue diseases

*= For these genes, an MLPA analysis may be carried out as an additional diagnostic step.


Small panel (#010): Marfan syndrome and type 1 fibrillinopathies, genes according to EBM numbers 11444 and 11445

FBN1*; TGFBR1*TGFBR2*
(3 genes, 11,83 kb)


Small panel (#389): Thoracic aorta enlargement and aortic dissection, genes according to EBM number 11448 (does not require application)

ACTA2, BGN, C1R, CBS, COL1A1*, COL1A2*COL3A1*, COL4A5*, COL5A1, COL5A2, EFEMP2, ELNFBN1*, FBN2, FKBP14, FLNA, FOXE3, GATA5, LOX, MAT2A, MFAP5MYH11MYLK, NOTCH1, PLOD1*, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4TGFB2, TGFB3TGFBR1*TGFBR2*, ZNF469
(36 genes, 116,5 kb)


Large panel (#390): Connective tissue diseases (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes) according to NCBI GeneReviews and Clinical utility gene card

ACTA2, ADAMTS2, AEBP1, 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, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1*, TGFBR2*, TNXB, ZNF469
(44 genes, 153,19 kb)


Large panel (#144): Ehlers-Danlos syndrome, selection according to Clinical utility gene card, EDS Type I–VII

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)


Small panel (#014): Ehlers-Danlos syndrome, key genes according to NCBI GeneReviews and 2017 international classification of the EDS (does not require application)

ADAMTS2, COL1A2*, COL3A1*, COL5A1, COL5A2, FKBP14, PLOD1
(7 genes, 24,98 kb)


Small panel (#015): Ehlers-Danlos syndrome, dominant (does not require application)

COL1A1*, COL1A2*, COL3A1*, COL5A1, COL5A2
(5 genes, 22,9 kb)


Small panel (#016): Ehlers-Danlos syndrome, recessive (does not require application)

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*, SMAD2, SMAD3, TGFBR2*, COL1A2*

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

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Marfan syndrome, EDS & other connective tissue diseases
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