Neurochemistry Lab Services
The Clinical Biochemistry of the department of Neurochemistry provides the following diagnostic services for patient care
Routine blood chemistry
Glucose, Liver function tests, Renal function test, Lipid profile
Electrolytes, Muscle enzymes-CPK, LDH, Calcium, phosphorus, Uric acid
CSF- biochemical analysis
CSF 14-3-3 (Instructions for CSF 14-3-3 test request)
Glucose,Protein,Lactate,Chloride
Osmolality
Therapeutic drug monitoring: Lithium,Phenobarbitone,Phenytoin,Valproic acid, Carbamazepine
Metabolic disorder workup:Urine screening for abnormal metabolite,Ammonia, Lactate
Enzymes for diagnosis of GM2 Gangliosidoses, Tay Sach disease, Sandhoff disease, Metachromatic leukodystrophy
Wilson disease workup:Serum Copper, 24-hour urine copper, Serum Ceruloplasmin
Prothrombotic workup:Antiphospholipid antibody ( IgG, IgM) screening,Lupus anticoagulant,
Anti-cardiolipin antibodies (IgG, IgM, IgA)
Homocysteine, Protein C,Protein S,Antithrombin III
Hormones: Thyroid profile-T3, T4, TSH
Vitamins:Vitamin B12,Folate
Blood clotting factor:Fibrinogen
Diabetes workup:HbA1,Urine Microalbumin
Other special tests: Angiotensin converting enzyme
The Metabolic Laboratory of the Department of Neurochemistry conducts high-throughput, tandem mass spectrometry -based screening for Inborn Errors of Metabolism (IEM) for NIMHANS patients as well as for outside referrals. In a drop of blood collected on filter paper, 42 analytes are measured including 10 amino acids, free carnitine and 31 acyl carnitines. Based on the characteristic profiles, inborn errors of amino acid metabolism, fatty acid oxidation defects and organic acidemias are identified. Inborn errors of metabolism are a group of rare genetic disorders that, if untreated, can cause severely adverse clinical outcomes including irreversible mental retardation, physical disability and even death in affected babies. It is therefore extremely important to detect and accurately diagnose these disorders as soon as possible after birth. Tandem Mass Spectrometry (also called MS/MS) is a technique that has been shown to be suitable for the reliable detection of inborn errors of metabolism: it is highly accurate and able to measure multiple compounds simultaneously. The Metabolic Laboratory participates, and has obtained, 100% satisfactory results in the Newborn Screening Quality Assurance Program conducted by the Center for Disease Control and Prevention (CDC), Atlanta, USA. For further details regarding this facility please visit (web link) or contact us at 080-26995160 or email us at nimhanstms2021@gmail.com or ncmetaboliclab@gmail.com