Difference between revisions of "Molecular pathology tests"
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Revision as of 14:24, 4 May 2011
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 |
| F5[3] | PCR | thrombophilia | see Risks for VTE |
| HFE[4] Cys282Tyr, His63Asp | PCR | hemochromatosis | - |
| RYR1 | PCR & sequencing | malignant hyperthermia | anesthetics |
| several | 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 | ||
| HHV8 | PCR, HPV linear array | HHV8 associated lymphomas (body cavity lymphoma, primary effusion lymphoma) |
Leukemia
- Several.
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 | netastatic colorectal carinoma | |
| 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 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