Molecular pathology tests
This article is a collection of molecular pathology tests. It is not meant to be complete list. It is there to give a flavour of what is out there and how things are done.
Hereditary
Tests for hereditary conditions:[1]
Target | Technique | Disease | Notes |
---|---|---|---|
F2[2] | PCR | thrombophilia | see Risks for VTE, done together with F5 |
F5[3] | PCR | thrombophilia | see Risks for VTE, done together with F2 |
HFE[4] Cys282Tyr, His63Asp | PCR | hemochromatosis | - |
RYR1 | PCR & sequencing | malignant hyperthermia | anesthetics |
APOA1, TTR, FGA, LYZ | PCR & sequencing | herediary amyloidosis | |
HBA | PCR | Alpha thalassemia |
Lymphoma
Tests for lymphomas:[1]
Target | Technique | Disease | Notes |
---|---|---|---|
BCL2 | PCR | follicular lymphoma vs. follicular hyperplasia | |
several | Southern / PCR | T cell neoplasia | |
Ig heavy chain, Ig light chain | Southern / PCR | B cell neoplasia | |
EBV | PTLD vs. rejection | ||
HHV-8 | PCR | HHV-8 associated lymphomas (body cavity lymphoma, primary effusion lymphoma) |
Leukemia
Tests for leukemias:[1]
Target | Technique | Disease | Notes |
---|---|---|---|
BCR-ABL1 t(9;22) | RQ-PCR | CML, ALL | used to detect residual disease[5] |
MLL-AF4 t(4;11) | RQ-PCR | ||
PML-RARA t(15;17) | RQ-PCR | APL | detect relapse, diagnostic, determines therapy |
RUNX1-RUNX1T1 (AKA AML1/ETO) t(8;21) | RQ-PCR | AML-M2 | good prognosis |
CBFB-MYHII t(16;16) | RQ-PCR | AML-M4Eo | good prognosis |
ETV6-RUNX1 t(12;21) | RQ-PCR | ALL, AML | good prognosis |
FLT3, NPM1 (FLT-3, NPM) | RT-PCR/RE digest | AML | prognostic |
15 STR loci, amelogenin | PCR | chimerism (post BMT), identity testing | monitor transplants, sort-out mixed-up specimens |
Carcinoma
Tests for carcinomas:[1]
Target | Technique | Disease | Notes |
---|---|---|---|
EBV quantitation | PQ-PCR | Nasopharyngeal carcinoma | |
HPV several | PCR | squamous cell carcinoma (cervix) | |
KRAS, BRAF | fluorescent RFLP, real time PCR, sequencing | metastatic colorectal carcinoma | |
EGRF | fluorescent RFLP | non small cell lung cancer | |
BRAF V600E | ARMS | papillary thyroid carcinoma |
Other
Tests for miscellaneous things:[1]
Target | Technique | Disease | Notes |
---|---|---|---|
LOH 1p, 19q | PCR | oligodendroglioma | |
15 STRs and amelogenin (XY) loci | identity testing | ||
KIT, BRAF | sequencying, ARMS | malignant melanoma | |
several | PQ-PCR | synovial sarcoma | |
JAK2 V617F | ARMS | myeloproliferative disorders | |
KIT | sequencing | AML, mastocytosis, GIST |
See also
References
- ↑ 1.0 1.1 1.2 1.3 1.4 University Health Network. Molecular diagnostics - current testing. Document number: PMD10002. Version 2.0. March 30, 2011.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 176930
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 612309
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613609
- ↑ Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 175. ISBN 978-1416054542.