Medical Genetics Ι Molecular pathology

Molecular pathology

Micobiology

Human Papilloma Virus, complete HPV-Typing

Borrelial Lymphocytoma, Bäfverstedt-Syndrome
Borrelia burgdorferi sensu lato

Oncology

Adenomatous Polyposis Coli, APC
APC-Gene, MIM *175100

Familial Breast Cancer
BRCA1-Gene, MIM *113705; BRCA2-Gene, +600185; TP53Gene *191170

Carney-Komplex Type1
PRKAR1A-Gene, MIM *188830

Cowden Syndrome
PTEN-Gene, MIM *601728

Familil isolated Hyperparathyroidism, FIHP
HRPT2-Gene, MIM *602393; MEN1-Gene, MIM *131100; HRPT3-Gene, CASR-Gene, MIM +601199

Familial isolated Somatopinoma, GH sezernierende Hypophysenadenome
Aryl Hydrocarbon Receptor Interacting Protein, AIP-Gene, MIM *605555

Hereditary non-polyposis Colon-Carcinom, Lynch-Syndrome
HNPCC, MSH2-Gene, MIM *609309; MLH1-Gene, MIM *120436; MSH6-Gene, MIM *600678; MLH3-Gene, *604395; PMS1-Gene, MIM *600258; PMS2-Gene, MIM *600259; TGFBR2-Gene, MIM *190182

HPT-Jaw Tumor Syndrome
HRTP2, Parafibromin-Gene, MIM *607393

Li Fraumeni-Syndrome
Tumorsuppressor-p53, TP53-Gene, MIM *191170

Microsatellite Instability, MSI

Multiple endokrine Neoplasie Type1
MEN 1-Gene, MIM *131100

Multiple endokrine Neoplasie Type2A and 2B
RET-Proto-OncoGene, RET-Gene, MIM +164761

Multiple endokrine Neoplasie Type4
CDKN1B-Gene, MIM *600778

Multiple Pheochromocytoma, Paraganglioma
PGL1, Succinat Dehydrogenase Subunit D, SDHD-Gene, MIM *602690; PGL2-, Complex Assembly Factor 2, SDHAF2 Gene, MIM*613019; PGL3, SDH Subunit C, SDHC-Gene, MIM *602413; PGL4, SDH Subunit B, SDHB-Gene, MIM *185470

Neurofibromatose Type1
Neurofibromin-Gene, NF1-Gene, MIM +162200

Peutz-Jeghers Syndrom
Polyposis, Hamartomatous Intestinal Polyps and Spots Syndrome, Serine/Threonine Proteinkinase 11-Gene, STK11-Gene, MIM *602216

Von Hippel-Lindau-Syndrome
VHL-Gene, MIM *688537

Paclitaxel-Therapy
Cytochrome p450 2C8, CYP2C8-Gene, MIM *601129

Tamoxifen-Therapy
Cytochrom p450 2D6, CYP2D6-Gene, MIM +124030

5-Fluor-Uracil-Therapy, Dihydropyrimidine-Dehydrogenase
DPYD-Gene, MIM +274270

Methotrexat-Therapy
Methyltetrahydrofolatreduktase, MTHFR-Gene MIM +236250

Azathioprin-Therapy
Thiopurin-S-Methyltransferase, TPMT-Gene, MIM *187680

Irinotecan-Therapy, UDP-Glycosyltranferase 1
UGT1A1-Gene, MIM *191740