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 (#701): 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, ELN, FBN1*, FBN2, FKBP14, FLNA, FOXE3, GATA5, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1*, PRKG1, ROBO4, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1*, TGFBR2*, THDS4, ZNF469
(38 genes, 121,5 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)
Small panel (#609): Stickler syndrome
COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2
(6 genes, 21,9 kb)
Single gene diagnostics:
ACTA2, COL3A1*, MYH11, TGFB2, CBS, COL4A5*, MYLK, TGFBR1*, COL1A1*, FBN1*, SMAD2, SMAD3, TGFBR2*, COL1A2*
Full panel Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome and thoracic aorta enlargement
Large panel (#702): all genes in the panel