Molecular Diagnostics Laboratory: Introduction, List of Tests, Specimen,Testing Method, and Keynotes
Table of Contents
As we know, simple diseases are due to either metabolic disorders or infectious agents (bacteria, viruses, fungi, parasites, prions). Molecular Diagnostics is a powerful tool for the identification of both conditions at genetic levels (e.g. metabolic disorders like cancer, and anemia while infectious conditions like COVID-19 and AIDS). It is applied for the detection of genomic variants, aiming to facilitate detection, diagnosis, sub-classification, prognosis, and monitoring response to therapy. This laboratory is also useful for those microbes which are hard to cultivate (Chlamydia, Rickettsia, viruses), time taken, and even dead microbes detection in specimens. RT-PCR is the gold standard for COVID-19 diagnosis to find out the etiological agent, SARS-CoV-2. Similarly, GeneXpert is the confirmatory test for tuberculosis. If I’m not wrong, today is the molecular era since such laboratories are having a greater impact on the treatment and care of patients and thus ‘Molecular Diagnostics’ is the game-changer for medicine.
| S.No | Name of Tests | Specimen | Testing Method |
| 1. | Alpha Thalassemia Mutation Detection (α3.7, α4.2) | EDTA blood (3 ml) | GAP PCR |
| 2. | Alpha Thalassemia Mutation Detection (?3.7, ?4.2) | EDTA blood (3 ml) | Real-Time PCR |
| 3. | Beta- Thalassemia Mutation Detection (IVS1-5 G-C, 619 bp deletion, cd 8/9 + G, IVS1-1 G-T, 41/42 – TTCT) | EDTA blood (5 ml) | Real-Time PCR |
| 4. | BK Virus/John Cunningham virus (JCV) Quantitative Real-Time PCR | whole blood (10 ml) | Real-Time PCR |
| 5. | BRAF (gene) V600E Mutation | Tissue (1 cm / 1 Block) | Real-Time PCR |
| 6. | SARS-CoV-2 PCR | Nasopharyngeal swab | RT PCR |
| 7. | Cytomegalovirus (CMV) Viral Load | EDTA blood (5 ml) | Real-Time PCR |
| 8. | Dengue RNA PCR | EDTA blood (3 ml) | Real-Time PCR |
| 9. | Duchenne/Becker muscular dystrophy | EDTA blood (5 ml) | Real-Time PCR |
| 10. | Epidermal Growth Factor Receptor gene (EGFR) Mutation Analysis | FFPE Block (1 cm / 1 Block) | RT PCR |
| 11. | EGFR Mutation Analysis (Liquid Biopsy) | EDTA blood (5 ml) | RT PCR |
| 12. | EML-4 ALK Translocation by RT PCR | FFPE Block (one slide) | RT PCR |
| 13. | Fragile X (FMR 1) Mutation Screen | EDTA blood (5 ml) | Real-Time PCR |
| 14. | Gilbert Syndrome Mutation Analysis | EDTA blood (3 ml) | RT PCR |
| 15. | Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutations | EDTA blood (3 ml) | Real-Time PCR |
| 16. | Hepatitis B Virus (HBV) Qualitative | EDTA blood (3 ml) | Real-Time PCR |
| 17. | HBV Viral Load Real-Time PCR | EDTA blood (3 ml) | Real-Time PCR |
| 18. | Hepatitis C virus (HCV) RNA PCR, QUALITATIVE | EDTA blood (3 ml) | Real-Time PCR |
| 19. | HCV RNA QUANTITATIVE | EDTA blood (3 ml) | Flocculation |
| 20. | HFE (Homeostatic Iron Regulator) gene mutations | EDTA blood (3 ml) | Spectrophotometry |
| 21. | Human leukocyte antigen B27(HLA B27) PCR | EDTA blood (3 ml) | Real-Time PCR |
| 22. | Human papillomavirus (HPV) DNA Detector | Swab (3 ml) | Real-Time PCR |
| 23. | Herpes simplex virus (HSV) DNA PCR | Serum ( 1ml) | Real-Time PCR |
| 24. | HPV (High Risk) (HPV types 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, 68) | Swab (1 ml) | Flocculation |
| 25. | Huntington Disease Molecular Analysis | EDTA blood (10 ml) | Real-Time PCR |
| 26. | Inflammatory bowel disease (IBD) Screening Panel (ASCA IgA, ASCA IgG, ANCA) | Serum ( 2 ml) | CMIA |
| 27. | JAK2 Exon 12 Mutation | EDTA blood (5 ml) | Real-Time PCR |
| 28. | JAK2 V617F Mutation Detection Exon 14 | EDTA blood (5 ml) | Real-Time PCR |
| 29. | JC/BK Virus (Quantatative) | EDTA blood (3 ml) | Real-Time PCR |
| 30 | Mycobacterium tuberculosis PCR (GeneXpert) | Sputum/Urine/BAL | Real-Time PCR |
| 31. | PML(Promyelocytic leukemia)/RARA (retinoic acid receptor alpha) t(15:17), Qualitative | EDTA blood (3 ml) | Real-Time PCR |
| 32. | PML/RaRa t(15:17), Quantitative | EDTA Blood (3 ml) | Real-Time PCR |
| 33. | SMA (spinal muscular atrophy) Carrier Detection | EDTA blood (5 ml) | MLPA Fragment Analysis |
| 34. | SRY (sex-determining region of the Y chromosome) Gene Detection | EDTA blood (3 ml) | RT PCR |
| 35. | Thalassemia; Alpha Thalassemia Muation Detection (?3.7, ?4.2, ?FIL, ?SEA, ?THAI ) PNDT | Swab (5 ml) | Real-Time PCR |
| 36. | Vericella Zoster Virus (VZV) PCR | EDTA blood (5 ml) | Real-Time PCR |
In the world of modern diagnostics, speed, accuracy, and comprehensiveness are critical—especially when dealing with…
Introduction In today’s rapidly evolving healthcare landscape, the demand for fast, accurate, and accessible diagnostic…
Introduction to MYCOscreen18 PCR Panel Identifying fungal infections quickly and accurately is a critical challenge…
The increasing burden of infectious diseases demands diagnostic solutions that are not only rapid but…
Fungal infections represent a growing global health challenge, causing over 1.7 million deaths annually, with…
Introduction Klebsiella aerogenes (formerly Enterobacter aerogenes) is an opportunistic Gram-negative, facultative anaerobic bacterium responsible for serious healthcare-associated infections…
View Comments
Thank you for the auspicious writeup. It in fact was a amusement account it. Look advanced to more added agreeable from you! By the way, how could we communicate?
We are a group of volunteers and starting a new scheme in our community. Your web site offered us with valuable info to work on. You've done an impressive job and our whole community will be thankful to you.
I do believe all the concepts you have presented on your post. They are really convincing and will certainly work. Nonetheless, the posts are very brief for starters. May you please extend them a little from next time? Thanks for the post.
Sweet blog! I found it while browsing on Yahoo News. Do you have any tips on how to get listed in Yahoo News? I've been trying for a while but I never seem to get there! Thank you
I truly appreciate this post. I’ve been looking all over for this! Thank goodness I found it on Bing. You've made my day! Thanks again
I've been browsing online more than three hours nowadays, yet I never discovered any attention-grabbing article like yours. It is pretty worth enough for me. In my view, if all website owners and bloggers made excellent content material as you did, the web will probably be much more useful than ever before.
wonderful points altogether, you simply won a emblem new reader. What may you suggest in regards to your publish that you just made a few days ago? Any sure?
Its like you learn my mind! You appear to grasp a lot about this, like you wrote the book in it or something. I believe that you can do with a few to drive the message house a little bit, but instead of that, that is fantastic blog. A great read. I'll certainly be back.
Excellent read, I just passed this onto a friend who was doing a little research on that. And he just bought me lunch since I found it for him smile Therefore let me rephrase that: Thanks for lunch!
I have fun with, result in I discovered exactly what I used to be taking a look for. You've ended my 4 day long hunt! God Bless you man. Have a great day. Bye