Diagnostics
Diagnostics
We specialize in diagnostics of rare genetic diseases on state of the art platforms using LCMSMS (Triple quadrupole Tandem mass spectrometry (TMS)) or (Next generation Sequencing (NGS)), in addition to routine analysis. Thus encompassing scope for new biomarkers and accurate estimation of established biomarkers.
All isoforms of Vitamin D:
Several forms (vitamers) of vitamin D exist. The two major forms are vitamin D2 or ergocalciferol, and vitamin D3 or cholecalciferol. The most active form released is 1, 25 dihydro vitamin D. All isomforms are separated and quantified on LCMSMS with deuterated internal standards.
Complete vitamin and mineral analysis:
Vitamins and minerals are both essential nutrients which are required in a daily diet. Altogether, there are 13 essential vitamins and many minerals (9 in particular) which are required for the body to function properly and to maintain the optimal health. All fat soluble and water soluble are quantitated on TMS and minerals of ICP-MS.
Vitamins and minerals analysed:
Vitamins | Nomenclature | Importance | Method of analysis |
Fat soluble |
|
|
|
Vitamin A | RetinalRetinoic acid | Vision maintenance, Immune function, Body growth, Hair growth, Reproductive function |
TMS |
Vitamin E | Tocopherols/ Tocotrienols Alpha-tocopherol | powerful antioxidant, preventing oxidative stress, absorption of fat | TMS |
Vitamin K | Vitamin K1 (phylloquinone), Vitamin K2 (menaquinone) | blood clotting, calcification of blood vessels, bone health | TMS |
Vitamin D | D2 (ergocalciferol)/ D3 (cholecalciferol) | Bone maintenance, Immune system regulation | TMS |
Water Soluble |
|
|
|
Vitamin C | ascorbic acid | scurvy: muscle and join pain, easy bleeding or bruising | TMS |
Vitamin B1 | thiamin | nerve and heart disease, beriberi | TMS |
Vitamin B2 | riboflavin | dry skin and lips, mouth sores, and sensitivity to light | TMS |
Vitamin B3 | niacin | Pellagra, diarrhea, dermatitis, dementia. | TMS |
Vitamin B5 | pantothenic acid | irritability, fatigue, muscle cramps and low blood sugar | TMS |
Vitamin B6 | pyridoxine | anemia, infection, heart disease, and depression | TMS |
Vitamin B7 | biotin | high cholesterol, scaly scalp, nausea, anemia, and lethargy | TMS |
Vitamin B9 | folic acid/ folate | neural tube defect, | TMS |
Vitamin B12 | cyanocobalamine | nerve demyelination, peripheral neuropathy, pernicious anemia, the elevated homocysteine levels of heart disease. | TMS |
|
|
|
|
Minerals:
|
|
|
|
| Calcium | major electrolyte mineral, healthy bones and teeth | ICP-MS |
| potassium | major essential minerals. plays a critical role in determining fluid balance inside and outside of cells, regulating blood pressure | ICP-MS |
| Sodium | major electrolyte mineral, determine fluid balance within the body | ICP-MS |
| Magnesium | major electrolyte mineral, maintenance of healthy bone tissue | ICP-MS |
| Copper | trace mineral, vital part of several important enzymes and proteins, | ICP-MS |
| Zinc | essential trace mineral , vital role in the immune system | ICP-MS |
| Phosphorous | major minerals, important component of bone, vital for storing and transferring energy, and for the overall growth, development, and repair of the body’s tissues | ICP-MS |
| IRON | essential trace mineral, vital for producing hemoglobin, iron-deficiency anemia | ICP-MS |
| Iodine | trace mineral , vital role in producing thyroid hormones | ICP-MS |
| Chloride | major mineral, regulating fluids within the body | ICP-MS |
New born screening with enzyme activities and urine/plasma metabolites
A blood test done on a new born baby to check for genetic, metabolic, blood, or other disorders that are not apparent immediately after delivery.
SNO | Test Name | Protein/Enzyme /Metabolite | Method of analysis | Type of Sample |
1 | NBS 17 OHP | congenital adrenal hyperplasia (CAH) |
ELIZA/Florimetry | DBS |
2 | NBS-BIOT | Biotinidase | ELIZA/Florimetry | DBS |
3 | NBS-IRT | immunoreactive trypsinogen (IRT), cystic fibrosis | ELIZA/Florimetry | DBS |
4 | NBS-TSH | Thyroid Stimulating Harmone (TSH) | ELIZA/Florimetry | DBS |
5 | NMS-G6PD | Glucose-6-phosphate Dehydrogenase | ELIZA/Florimetry | DBS |
6 | NBS-GAL | Total Galactose | ELIZA/Florimetry | DBS |
7 | NBS-PKU | Phenylketonuria | TMS+ ELIZA/Florimetry | DBS |
8 | NBS-4 | 17 OHP, G6PD, GAL, TSH | ELIZA/Florimetry | DBS |
9 | NBS-6 | NBS4+IRT, BIOT | ELIZA/Florimetry | DBS |
10 | NBS-7 | NBS-6+PKU | ELIZA/Florimetry | DBS |
11 | TMS | Amino acids and Acylcarnitines | TMS | DBS |
12 | TMS-extended | TMS+NBS-4 | TMS+ ELIZA/Florimetry | DBS |
13 | TMS extended total | TMS+NBS-7 | TMS+ ELIZA/Florimetry | DBS |
14 | AAA | Quantitative Amino acid Profile | TMS | Plasma |
15 | UOA | Urine Organic Acid Profile Quantitative | TMS | URINE strips |
16 | NBS-TOTAL | NBS-7 + TMS + UOA + AAA | TMS+ ELIZA/Florimetry | DBS + Plasma + Urine |
Pharmacotoxicity for sensitive drugs
The comprehensive, turn-key toxicology screening and identification of 275 compounds in human urine and human plasma on TMS with complex sample preparation and clarifications. MRM analysis for simultaneous identification of several compounds in single runs.
Quantitative analysis of serum, plasma and urine metabolites
One method, LC–MS/MS in particular, appears to be particularly promising for catecholamine measurements in blood. For instance, LC–MS/MS has high sensitivity and specificity for the quantification of free catecholamines and their metabolites in plasma/serum or urine at low nanomolar concentrations. An MRM LCMSMS method does simultaneous detection and quantification of catecholamines in serum, including dopamine, 5-methoxytryptamine, tyramine, phenylethylamine (PEA), epinephrine (EPI), norepinephrine (NE), metanephrine (MN), and normetanephrine (NMN).
Quantitative analysis of Proteins and peptides
Quantitative proteomics is a powerful approach used for both discovery and targeted proteomic analyses to understand global proteomic dynamics in a cell, tissue or organism. Most quantitative proteomic analyses entail the isotopic labelling of proteins or peptides in the experimental groups, which can then be differentiated by mass spectrometry. This approach will identify peptides, proteins or post-translational modifications that support early disease detection, facilitate diagnosis, inform prognosis, guide therapy or monitor disease activity. With the obvious disadvantages in immunoassays of cross reactivity and overestimations there is paradigm shift in analysis of several protein and peptide targets on LCMSMS.
Therapeutic Drug Monitoring
Powerful drugs with narrow therapeutic ranges are prescribed to recipients for several indications. of organ transplants to lower the possibility of graft rejection occurring. Initially, almost all laboratories turned to immunoassay platforms. But this technique has major disadvantage of over estimation and cross reactivity across the drug ranges which risk the therapeutic potential for the patient. LCMSMS has emerged as the best absolute quantitation method for such life saving drugs with its quantitative accuracy, sensitivity and selectivity.
Clinical exome
Clinical Exome is a DNA test that can identify the molecular basis of a genetic disorder in individuals with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder on NGS platform. It is a powerful tool for identification and confirmations of genetic mutations.
Microbial identification by MALDI biotyper
The MALDI Biotyper® system solution based on the microflex® LT/SH MALDI-TOF mass spectrometer has, over the last decade, revolutionized the routine identification of microorganisms. As many countries across the world are challenged with a rising number of multi-drug resistant organisms, there’s a high need for rapid and accurate detection of antimicrobial resistance. MALDI-TOF technology is recognized as a reliable, reproducible method to rapidly identify bacteria from positive blood cultures, and can detect subsequently beta-lactamase activity in bacterial strains in one workflow.
