Molecular Diagnostics Laboratory: Introduction, List of Tests, Specimen,Testing Method, and Keynotes

Introduction of Molecular Diagnostics Laboratory

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.

Molecular Diagnostics Laboratory: Introduction, List of Tests, Specimen,Testing Method, and Keynotes
Fig. Molecular Laboratory-A step of preparing reagent for RNA extraction of SARS-CoV-2

List of Molecular Biology Tests, Specimen, and Testing Methods

S.NoName of TestsSpecimenTesting 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 PCRwhole blood (10 ml)Real-Time PCR
5.BRAF (gene) V600E MutationTissue (1 cm / 1 Block)Real-Time PCR
6.SARS-CoV-2 PCRNasopharyngeal swabRT PCR
7.Cytomegalovirus (CMV) Viral LoadEDTA blood (5 ml)Real-Time PCR
8.Dengue RNA PCREDTA blood (3 ml)Real-Time PCR
9.Duchenne/Becker muscular dystrophyEDTA blood (5 ml)Real-Time PCR
10.Epidermal Growth Factor Receptor gene (EGFR) Mutation AnalysisFFPE 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 PCRFFPE Block (one slide)RT PCR
13.Fragile X (FMR 1) Mutation Screen EDTA blood (5 ml)Real-Time PCR
14.Gilbert Syndrome Mutation AnalysisEDTA blood (3 ml)RT PCR
15.Glucose-6 Phosphate Dehydrogenase (G6PD) Gene MutationsEDTA blood (3 ml)Real-Time PCR
16.Hepatitis B Virus (HBV) QualitativeEDTA blood (3 ml)Real-Time PCR
17.HBV Viral Load Real-Time PCREDTA blood (3 ml)Real-Time PCR
18.Hepatitis C virus (HCV) RNA PCR, QUALITATIVEEDTA blood (3 ml)Real-Time PCR
19.HCV RNA QUANTITATIVEEDTA blood (3 ml)Flocculation
20.HFE (Homeostatic Iron Regulator) gene mutationsEDTA blood (3 ml)Spectrophotometry
21.Human leukocyte antigen B27(HLA B27) PCREDTA blood (3 ml)Real-Time PCR
22.Human papillomavirus (HPV) DNA Detector Swab (3 ml)Real-Time PCR
23.Herpes simplex virus (HSV) DNA PCRSerum ( 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 AnalysisEDTA 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 14EDTA blood (5 ml)Real-Time PCR
29.JC/BK Virus (Quantatative)EDTA blood (3 ml)Real-Time PCR
30Mycobacterium tuberculosis PCR (GeneXpert)Sputum/Urine/BALReal-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 DetectionEDTA blood (3 ml)RT PCR
35.Thalassemia; Alpha Thalassemia Muation Detection (?3.7, ?4.2, ?FIL, ?SEA, ?THAI ) PNDTSwab (5 ml)Real-Time PCR
36.Vericella Zoster Virus (VZV) PCREDTA blood (5 ml)Real-Time PCR
Table: List of Molecular Tests, Specimen Requirements, and Testing Methods

Keynotes on Molecular Diagnostics

  • Gap-PCR stands for Gap-polymerase chain reaction.
  • MLPA stands for multiplex ligation-dependent probe amplification.
  • RT-PCR stands for a Reverse transcription-polymerase chain reaction.
  • CMIA stands for Chemiluminescent Microparticle Immuno Assay.
  • BK virus is a brief of the name of the first patient, from whom the virus was isolated in 1971 and the full name is not written because of personal identification following ethical guidelines.
  • Echinoderm microtubule-associated protein-like 4 anaplastic lymphoma kinase (EML4-ALK) is a fusion gene.
  • pANCA stands for Perinuclear Anti-Neutrophil Cytoplasmic Antibody while ASCA stands for Anti-Saccharomyces cerevisiae Antibody.

33 thoughts on “Molecular Diagnostics Laboratory: Introduction, List of Tests, Specimen,Testing Method, and Keynotes”

  1. 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.

  2. Thanks for your post. I’d really like to comment that the tariff of car insurance varies from one insurance plan to another, simply because there are so many different issues which contribute to the overall cost. As an example, the make and model of the auto will have a tremendous bearing on the fee. A reliable ancient family car will have a lower priced premium when compared to a flashy expensive car.

  3. I have observed that car insurance corporations know the vehicles which are liable to accidents and other risks. In addition they know what type of cars are inclined to higher risk and the higher risk they’ve already the higher a premium fee. Understanding the very simple basics connected with car insurance will assist you to choose the right type of insurance policy that may take care of your needs in case you get involved in an accident. Many thanks for sharing your ideas with your blog.

  4. I’m really impressed with your writing skills as well as with the layout on your blog. Is this a paid theme or did you customize it yourself? Either way keep up the excellent quality writing, it is rare to see a nice blog like this one these days..

  5. One thing I have actually noticed is that often there are plenty of fallacies regarding the financial institutions intentions when talking about home foreclosure. One delusion in particular is the fact the bank prefers to have your house. The lending company wants your hard earned cash, not your home. They want the money they lent you together with interest. Staying away from the bank will simply draw the foreclosed realization. Thanks for your article.

  6. I have observed that smart real estate agents all around you are getting set to FSBO ***********. They are acknowledging that it’s in addition to placing a sign post in the front property. It’s really pertaining to building relationships with these retailers who later will become buyers. So, when you give your time and energy to encouraging these traders go it alone : the “Law associated with Reciprocity” kicks in. Interesting blog post.

  7. Pretty section of content. I just stumbled upon your weblog and in accession capital to assert that I acquire in fact enjoyed account your blog posts. Any way I’ll be subscribing to your feeds and even I achievement you access consistently quickly.

  8. I acquired more new stuff on this weight-loss issue. 1 issue is that good nutrition is highly vital any time dieting. An enormous reduction in fast foods, sugary ingredients, fried foods, sugary foods, pork, and white flour products might be necessary. Retaining wastes parasitic organisms, and wastes may prevent desired goals for losing weight. While particular drugs in the short term solve the condition, the bad side effects are certainly not worth it, and they also never supply more than a temporary solution. It is just a known incontrovertible fact that 95 of fad diet plans fail. Many thanks for sharing your notions on this website.

  9. Thanks a lot for the helpful post. It is also my belief that mesothelioma cancer has an really long latency time period, which means that signs of the disease might not exactly emerge right until 30 to 50 years after the primary exposure to asbestos. Pleural mesothelioma, that is certainly the most common sort and influences the area within the lungs, may cause shortness of breath, chest pains, and a persistent coughing, which may cause coughing up blood.

  10. Some tips i have seen in terms of computer memory is that there are specific features such as SDRAM, DDR and many others, that must match the specs of the motherboard. If the personal computer’s motherboard is very current while there are no computer OS issues, updating the memory literally will take under one hour. It’s among the easiest computer system upgrade types of procedures one can visualize. Thanks for expressing your ideas.

  11. There are actually plenty of particulars like that to take into consideration. That is a nice level to deliver up. I supply the thoughts above as basic inspiration but clearly there are questions like the one you carry up the place a very powerful thing will probably be working in honest good faith. I don?t know if best practices have emerged around things like that, however I am certain that your job is clearly identified as a good game. Each girls and boys really feel the influence of only a second?s pleasure, for the rest of their lives.

  12. Yet another issue is that video gaming has become one of the all-time most significant forms of excitement for people of nearly every age. Kids engage in video games, and adults do, too. The particular XBox 360 is probably the favorite games systems for many who love to have hundreds of games available to them, along with who like to experiment with live with some others all over the world. Thanks for sharing your thinking.

  13. This is very interesting, You are a very skilled blogger. I have joined your feed and look forward to seeking more of your magnificent post. Also, I’ve shared your website in my social networks!

  14. Thanks , I’ve recently been searching for information approximately this subject for a while and yours is the greatest I’ve discovered till now. But, what concerning the conclusion? Are you sure in regards to the supply?

  15. Pretty great post. I just stumbled upon your weblog and wanted to mention that I’ve really loved browsing your blog posts. After all I will be subscribing on your rss feed and I’m hoping you write once more soon!

  16. I loved as much as you will receive carried out right here. The sketch is attractive, your authored material stylish. nonetheless, you command get got an edginess over that you wish be delivering the following. unwell unquestionably come further formerly again as exactly the same nearly a lot often inside case you shield this hike.


Leave a Comment