Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Dr. Klein, Dr. Rost und Kollegen

Disease OMIM-P ICD-10 Gene OMIM-G
Congenital Adrenal Hyperplasia (CAH)201910E25.09CYP21A2* ,**613815
Maple Syrup Urine Disease (MSUD)248600E71.0BCKDHA*248611
Maple Syrup Urine Disease (MSUD)248600E71.0BCKDHB*608348
Biotinidase Deficiency253260E71.0BTD*-
Carnitine Palmitoyltransferase Deficiency I (CPTI)255120E71.1CPT1A*600528
Carnitine Palmitoyltransferase Deficiency II (CPTII)608836E71.1CPT2*600650
Carnitine-Acylcarnitine Translocase Deficiency (CACTD)212138E71.1SLC25A20*613698
Galactosemia230400E74.2GALT* ,**606999
Glutaric Acidemia I231670E72.9GCDH*608801
Isovaleric Acidemia243500E71.1IVD*607036
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)609016E71.-HADHA*600890
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)609016E71.-HADHB*143450
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)201450E71.-ACADM*607008
Phenylketonuria/Hyperphenylalaninemia (PKU/HPA)261600E70.0/E70.01PAH* ,**612349
Very Longchain-Acyl-CoA Dehydrogenase Deficiency (VLCAD)201475E71.3ACADVL* ,**609575

* all genes can be requested individually as Sanger sequencing(show only genes for Sanger sequencing)

** deletion / duplication analysis by MLPA