Molekulare Diagnostik

 

an Pathologie-Instituten in Österreich

Zahlreiche moderne zielgerichtete Therapien in der Onkologie benötigen den Nachweis einer spezifischen Veränderung im Tumorgewebe und eine exakte Tumortypisierung, welche zeigen ob die Therapie wirken kann oder nicht.

Darüber hinaus sind molekularpathologische Untersuchungen bei der klinischen Diagnostik von metabolischen, infektiösen und pränatalen Erkrankungen unabdingbare Hilfsmittel.

Hier finden Sie eine Auflistung der häufigsten molekulargenetischen bzw. molekularpathologischen Untersuchungen, welche an Pathologieinstituten in Österreich durchgeführt werden.
(Stand: Oktober 2008)

 

 

Lymphomas

Analysis: B-/T-Cell Clonality Assesment

 Method

Immunoglobulin light chain restriction (Kappa/Lambda) ISH
Immunoglobulin gene rearrangement (IgH) PCR / Frag. analysis
T-cell receptor gene rarrangement (TcRg) PCR / Frag. analysis
T-cell receptor gene rarrangement (TcRb) PCR / Frag. analysis

 

Analysis: Translocations

Method

t(14;18); follicular lymphoma PCR / LD-PCR
t(14;18); follicular lymphoma FISH
bcl-2 (break-apart) CISH
bcl-2 (break-apart)  
t(11;14); mantle cell lymphoma PCR
t(11;14); mantle cell lymphoma FISH
t(8;14); Burkitt lymphoma FISH
t(8;?) MYC (break-apart); Burkitt lymphoma FISH, CISH
t(14;?) IgH (break-apart) FISH
t(11;18) MALT lymphoma RT-PCR
t(11;18) / MALT1 t(18;break-apart); MALT lymphoma FISH
NMP/ALK PCR
BCL1/IgH PCR
Plasma cell myeloma, 13q and 17p deletions ISH
t(4;14) plasmacytoma FISH
del 13q plasmacytoma FISH
t(4;14) multiple myeloma (FGF-R3) FISH

 

Analysis: Others

Method

Kinase 2 (Ipsogen Mutaquant Realtime PCR-Kit) PCR

 

 

Haematological Neoplasias

Analysis:

Method:

t(8;21); AML, M2 FISH
t(8;21); AML, M2 PCR
t(8;21) AML/ETO QRT-PCR
t(15;17); AML, M3 FISH
t(15;17); AML, M3 PCR
t(15;17) PML/RARA QRT-PCR
inv.(16); AML, M4Eo PCR
inv(16) CBF/MYH11 RT-PCR
inv(16) CBF/MYH11 QRT-PCR
t(9;22);CML FISH
t(9;22); CML PCR
t(9;22) BCR/ABL QRT-PCR
p53; del(17p13.1) FISH
del(13q14.3) FISH
del(11q22.3) FISH
12p11.1-q11(CEP12) FISH
8p11.1-q11 (CEP8) FISH
5q31.1-3 FISH
5q33-q34 FISH
7q31.1-3 FISH
11p11.1-q11 FISH
bcr-abl transcripts qRT-PCR
JAK-2 mutation analysis DHPLC
Jak2 V617F mutation Q-PCR
PML-RARa RT-PCR
Hemavision - translocation analysis RT-PCR
c-kit Mutation (Exon 17) DHPLC
Chimerism analysis (KMT) PCR
t(X;11) MLL/AFX RT-PCR
TAL1D SIL/TAL RT-PCR
t(1;11) MLL/AF1q RT-PCR
t(1;11) MLL/AF1p RT-PCR
t(1;19) E2A/PBX1 RT-PCR
t(2;5) NPM/ALK RT-PCR
t(3;5) NPM/MLF1 RT-PCR
t(3;21) AML1/MDS1 RT-PCR
t(4;11) MLL/AF4 RT-PCR
t(5;12) TEL/PDGFR RT-PCR
t(5;17) NPM(S)/RAR RT-PCR
t(6;9) DEK/CAN RT-PCR
t(6;11) MLL/AF6 RT-PCR
t(8;21) AML/ETO RT-PCR
t(8;21) AML/ETO QRT-PCR
t(9;9) SET/CAN RT-PCR
t(9;11) MLL/AF9 RT-PCR
t(9;12) TEL/ABL RT-PCR
t(9;22) BCR/ABL RT-PCR
t(10;11) MLL/AF10 RT-PCR
duppMLL MLL/MLL RT-PCR
t(11;17) PLZF/RAR RT-PCR
t(11;17) MLL/AF17 RT-PCR
t(11;19) MLL/ELL RT-PCR
t(11;19) MLL/ENL RT-PCR
t(12;21) TEL/AML1 RT-PCR
t(15;17) PML/RARA RT-PCR
t(15;17) PML/RARA QRT-PCR
inv(16) CBF/MYH11 RT-PCR
inv(16) CBF/MYH11 QRT-PCR
t(16;21) TLS/ERG RT-PCR
t(17;19) E2A/HLF RT-PCR
Flt3 internal tandem duplication PCR
NPM1 exon 12 mutation Q-PCR
KIT D816 mutation Q-PCR
wt1 quantification QRT-PCR
BAALC quantification QRT-PCR
ERG quantification QRT-PCR

 

Other (Leukaemias)

Analysis:

Method:

BCR/ABL FISH
t(2;?) AL (break-apart) FISH
CLL panel FISH
t(15;17((PML/RARA) FISH
t(3;?) BLC6 (break-apart) FISH
MLL (11q23) FISH
MYB (6q23) FISH
CEP 8 FISH

 

Soft tissue tumors

Analysis:

Method:

t(X;18) synovial sarcoma RT-PCR
FKHR (break-apart) alveolar rhabdomyosarcoma FISH
EWSR1 (break-apart); Ewing sarcoma FISH
SYT (break-apart) synovial sarcoma FISH
CHOP (break-apart) / FUS (break-apart) myxoid liposarcoma FISH
MDM2 amplification FISH
CDK4 amplification FISH

 

Other tumors

Analysis: Aneusomy / amplifications / deletions / allelic imbalance

Method:

Her-2 amplification; breast carcinoma FISH, CISH, SISH
Topoisomerase 2a amplification; breast carcinoma FISH
EGFR amplification FISH
MYCN amplification; neuroblastoma FISH
Deletion 9p21; mesothelioma FISH
Aneusomy 3, 7, 17, 9p21; bladder cancer FISH (Urovysion)
Aneusomy 6, 5p15, 7p12, 8q24; lung cancer FISH (LAVysion)
LOH; p53 / CEP 17 FISH
LOH 1p/19q; glioma FISH
LOH Chromosome 18q; colorectal cancer (9 microsatellites) PCR / Frag. analysis
Microsatellite-instability (5-7 microsatellites); colorectal cancer PCR / Frag. analysis
B-RAF Mutation (V600E) DHPLC, Sequencing

 

Mutation analysis:

Method:

p53 (Exons 5-8) PCR / Sequencing
KRAS PCR / Sequencing
PDGFRa (Exons 12, 14, 18); GIST PCR / Sequencing
PDGFRb; mastocytosis PCR / Sequencing
EGFR (Exons 18-21) PCR / Sequencing
c-KIT (Exons 9,11,13); GIST PCR / Sequencing
VHL (3 Exons); renal carcinoma PCR / Sequencing
GNAS1 (Exon 8; Codon 201); fibrous dysplasia PCR / Sequencing
RET (Exons 8, 10, 11, 13-16); neuroendocrine tumors PCR / DGGE / Seq
MEN1 (Exons 2-10); neuroendocrine tumors PCR / DGGE / Seq
SDHB/SDHC/SDHD (all Exons); neuroendocrine tumors PCR / DGGE / Seq
B-Raf (PTC) Codon 600 PCR/ Sequencing

 

 

Infectious diseases

Analysis: Viruses

Method:

Cytomegalovirus ISH
Cytomegalovirus PCR
Epstein-Barr Virus (EBER) ISH
Epstein-Barr Virus PCR
Enteroviruses PCR
Hepatitis A Virus PRC
Hepatitis B und Hepatitis B pre-core mutant PCR
Hepatitis B-DNA quantitative PCR
Hepatitis C Virus PCR
Hepatitis C-RNA qualitative PCR
HCV genotyping PRC/dot-blot
HCV quantitative PRC
HHV-1 & 2 Herpes Simplex Virus PCR
Herpes Simplex Virus ISH, PCR
Human Herpesvirus 6 PCR
Human Herpesvirus 8 PCR
Human papillomaviruses (HPV), incl. typing PCR / Seq or RFLP
HPV: high risk + low risk ISH
HPV: high risk + low risk Hybrid capture
Influenza Viruses A+B PCR
Norovirus PCR
SARS Coronavirus PCR
Parvoviruses PCR
VZV Varicella-Zoster Virus PCR

 

Analysis: Bacteria, Fungi, Protozoa

Method:

Bacteria (eubacterial PCR) PCR
Bartonella henselae, quintana PCR
Borrelia PCR
Candida albicans FISH
Chlamydia pneumoniae PCR
Chlamydia trachomatis PCR
EHEC / ESTEC PCR
Enterococcus species PCR
Helicobacter pylori PCR
Clarithromycin (Klazid)-resistence (Helicobacter pylori) PCR / dot-blot
Haemophilus influenzae PCR
Legionella species PCR
Legionella pneumophila PCR
Listeria PCR
Malaria-Plasmodia PCR
Mycobacterium tuberculosis PCR
katG-Mut (INH-Res.;Mycobacterium tuberculosis) PCR
rpoB-Mut (RIF-Res.; Mycobacterium tuberculosis) PCR
Mycobacterium leprae PCR
Mycobacteria atypical incl. typing PCR
Mycoplasma pneumoniae PCR
Neisseria gonorrhoeae PCR
Neisseria meningititis PCR
Pneumococcus PCR
Staphylococcus species PCR
Staphylococcus aureus PCR
MRSA PCR
MRSA direct PCR
Toxoplasma PCR
Toxoplasma Gondii PCR
Tropheryma whippelii PCR
Yersinia enterocolitica/Pseudotuberculosis PCR
Aspergillus fumigatus, flavus PCR
Pneumocystis carinii PCR

 

 

Metabolic disorders

Analysis:

Method:

HFE mutations (Exons 2 and 4); Hemochromatosis PCR / Sequencing
M. Wilson (ATP7B, H1069Q) PCR
Cystic fibrosis - Mutations PCR
1-Antitrypsine-Mutat.: Pi*M/S/Z PCR
Lactose Intolerance (T/C - 13910) PCR
Fructose/Lactose - Intolerance PCR
Mb. Meulengracht - UGT1A! (TA 6/7) PCR
Familial mediteranean fever PCR
Osteoporosis risk PCR
Celiac disease (HLA DQ2,DQ8,DR4) PCR
Factor V Mutation (R506Q) PCR/Lightcycler
PCR/Lightcycler PCR/Lightcycler

 

Method: Thrombophilia screening

Analysis:

Prothrombin - Mutation (G20210A) PCR
Factor V - Mutation (G1691A) PCR

 

Analysis: Pharmacogenomics

Analysis:

Cytochrome P450 (2D6, 2 C19) Chip

 

Method: CVD-Screening (Cardiovascular Disease)

Analysis:

MTHFR - Mutation (C677T) PCR
MTHFR - Mutation (A1298C) PCR
APO B (R3500Q) PCR
APO E (2, 3, 4) PCR
PAI-1 (4G/5G) PCR
HPA1 (1a/1b) PCR
ACE (I/D) PCR
Beta-Fibrogen (-455G>A) PCR
Faktor XIII (V34L) PCR

 

 

Prenatal diagnosis

Method:

Analysis:

AneuVysion Multicolor DNA Probe Kit (11,18,21,X,Y) (pränatal) FISH
DiGeorge Syndrome VCFS Probe Set (prenatal) FISH
WCP (Whole Chromosome Paint) DNA FISH Probes (prenatal) FISH

 

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