Metabolic disorders

As part of the specialized medical care at our University Hospital we offer genetic testing for some rare inherited metabolic disorders:

We offer in our accredited laboratory genetic testing including:

  • pretest evaluation of your patients clinical information in order to develop an individual genetic testing strategy
  • diagnostic prenatal and postnatal genetic testing by Sanger sequencing as well as MLPA analysis
  • carrier testing
  • prenatal carrier testing in subsequent pregnancies for forms with severe clinical manifestation prior to adolescence.

All identified sequence alterations, relevant or potentially relevant for the clinical findings of your patient, are

  • confirmed by Sanger sequencing,
  • carefully assessed using our in house evaluation workflow including comparison with the human reference genome hg19, publically available and our own extensive mutation database as well as in silico prediction of functional consequences applying different algorithms,
  • rated and summarized in an individual medical report considering provided clinical data.

We offer genetic testing by Sanger sequencing for:

Disease Disease
OMIM
Gene Gene
OMIM
Chromosomal
location

Metabolic disorders

familial intrahepatic Cholestasis        
Cholestasis, benign recurrent intrahepatic (BRIC1, BRIC2) (+Linkage) 243300
605479
ATP8B1
ABCB11
ABCB4
602397
603201
171060
18q21
2q24
7q21.1
Cholestasis, intrahepatic, of pregnancy, 1 (ICP) (+Linkage) 614972
147480
ABCB4
ATP8B1
ABCB11
171060
602397
603201
7q21.1
18q21
Cholestasis, progressive familial intrahepatic 1 (PFIC1, PFIC2, PFIC3) (+Linkage) 211600
601847
602347
ATP8B1
ABCB11
ABCB4
602397
603201
171060
18q21
2q24
7q21.1
Others        
Cystic fibrosis (+MLPA) 134700 G6PD 305900 Xq28
Glucose-6-phosphate dehydrogenase deficiency 304790 FOXP3 300292 Xp11.23
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX Syndrome) 219700 CFTR (36 Mutationen + Sequenzierung) 602421 7q31.2
Surfactant protein dysfunction/pulmonary alveolar proteinosis, congenital 610921
265120
610913
300770
ABCA3
SFTPB
SFTPC
CSF2RA
601615
178640
178620
306250
16p13.3
2p11.2
8p21.3
Xp22.33
Trimethylaminuria 602079 FMO3 136132 1q24.3