Multisystem diseases

Aniridia, WAGR syndrome, dominant
Gene OMIM Method
PAX6 607108 Sequencing

MLPA

Aorta enlargement, aortic aneurysm
Gene OMIM Method
ACTA2

MYH11

MYLK

102620

160745

600922

Sequencing
Cystic fibrosis, recessive
Gene OMIM Method
CFTR 602421 Sequencing

MLPA

OLA

Ehlers-Danlos syndrome
Gene OMIM Method
COL3A1 120180 Sequencing

MLPA

Pancreatitis, dominant
Gene OMIM Method
PRSS1 276000 Sequencing
Marfan syndrome, dominant
Gene OMIM Method
FBN1 134797 Sequencing
Lipodystrophy
Gene OMIM Method

PPARG

LMNA

601487

150330

Sequencing

Loeys-Dietz syndrome, dominant
Gene OMIM Method
TGFBR1

TGFBR2

TGFB2,

SMAD2

SMAD3

190181

190182

190220

601366

603109

Sequencing
MODY diabetes, dominant
Gene OMIM Method
GCK

HNF1A

HNF1B

HNF4A

POMC

138079

142410

189907

600281

176830

Sequencing

MLPA (except POMC)

Methylmalonic acidemia, homocysteinuria, recessive
Gene OMIM Method
CBS

MMACHC

MMADHC

613381

609831

611935

Sequencing
Porphyria, recessive
Gene OMIM Method
ALAD 125270 Sequencing

Contact

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

Access the request form here.

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