Biochemistry & Immunology

Biochemistry & Immunology

The Biochemistry Laboratory at Kokilaben Dhirubhai Ambani Hospital, Indore offers a diverse range of biochemical investigations of the body fluids such as urine, blood, and cerebrospinal fluid. The laboratory provides both routine and specialised testing in areas like immunology, tumour markers, vitamins, and therapeutic drug monitoring. The testing is performed by a team of highly skilled technical laboratory personnel who work under the supervision of an experienced and certified medical biochemist.

The team is responsible for the appropriate interpretation of results and use of investigations. It aims to provide cost-effective, excellent, evidence-based patient care in a clinically relevant turnaround time. Our Biochemistry Laboratory has the latest state-of-the-art equipment with complete backups and we offer 24 x 7 round-the-clock services. Our commitment to quality improvement combined with extensive training helps us deliver the best possible services in the tertiary care hospital settings.

Metabolism is the chemical processes that happens in the body and the body requires these processes to sustain life. Inherited metabolic disorders happen when abnormal chemical reactions interfere with these processes.

Some inherited disorders of metabolism can be diagnosed before birth or at the time of birth during a routine physical examination. The symptoms may also appear later.

Inherited metabolic disorders are uncommon genetic conditions that make the metabolism of a person to not function properly. Metabolism is an important chemical process through which food is converted into energy and toxins are removed from the body. Genetic defects pass down from parents to children and they cause abnormal chemical reactions that interfere with metabolism.

These disorders affect the ability of the body to convert food into energy and remove unhealthy substances and waste products. Cell development and brain function can be damaged due to some conditions. Inherited metabolic disorders are also referred to as inborn errors of metabolism and hereditary metabolic disorders.

Following are some common inherited metabolic disorders:

  • Lysosomal storage disorders
    Metabolic waste products are prevented from breakdown which results in the accumulation of toxins in the body. These include Gaucher disease, Hurler syndrome, and Tay-Sachs disease.
  • Maple syrup urine disease
    Amino acid accumulation causes nerve damage with the syrupy smell of the byproduct of the urine.
  • Glycogen storage diseases
    Low blood sugar is caused by poor sugar storage.
  • Mitochondrial diseases
    Mitochondria cell disorder causes involvement of many organ systems including the muscles, brain, kidneys, and the liver.
  • Peroxisomal disorders
    These disorders are similar to lysosomal disorders and lead to the accumulation of toxins.
  • Metal metabolism disorders
    These disorders occur when the trace metals accumulate to toxic levels. These include haemochromatosis and Wilson disease.

Genetic defects passed from generation to generation cause inherited metabolic disorders. Genetic changes can lead to a deficiency in enzymes or hormones. These deficiencies lead to abnormal chemical reactions that prevent the metabolism from working properly.

The symptoms of inherited metabolic disorders differ, depending on the condition. While the symptoms are sometimes mild, at other times are debilitating. Some symptoms include weight loss, developmental delay, seizures, growth disorder, poor appetite and energy levels, abdominal pain, and unusual odours in sweat, urine, and breath.

Metabolic disorders are diagnosed by healthcare providers with the help of screening tests. Blood tests and physical examination are important parts of the diagnosis process. There are many types of inherited disorders and the screening or testing for each disorder is different. Following are some types of diagnostic tools:

  • Metabolic testing
    Special testing known as metabolic testing may be recommended to look at amino acid, glucose, and fat metabolism patterns so that the diagnosis can be narrowed down. This can now be done by genetic testing by looking at changes in the genes. These tests may be performed on WBCs in the blood or on cells derived from swabbing inside the mouth. These tests can be ordered and interpreted by a genetic specialist.
  • Amniocentesis
    Tests for a wide range of metabolic disorders can be performed prenatally. During amniocentesis, a sample of amniotic fluid is taken and checked for abnormalities. Newborn screening performed on the sample collected by a tiny prick on the baby’s heel is checked for potential metabolic problems. The symptoms of inherited metabolic disorders are sometimes developed after birth. A healthcare provider may detect these signs during a physical examination. They may also include eye problems or muscle weakness.

Some children may have low glucose problems that may cause lethargy, seizures, or excessive sleepiness. Some children with certain disorders have enlarged spleens or livers. Others may experience changes in their facial appearances that may aid diagnosis. An examination of the inside of the eye may occasionally help narrow down the diagnosis.

The immune system usually protects us against viruses and bacteria. When it senses foreign invaders, it sends out immunological cells to attack them. The immune system can usually tell the difference between foreign cells and their own cells. When you suffer from an autoimmune disease, the immune system mistakes a part of your body such as the skin or joints, as foreign tissues. It releases proteins referred to as antibodies that attack healthy cells. There are more than eighty autoimmune diseases. Following are some of the commonest autoimmune diseases:

  • Type 1 diabetes
    The pancreas produces the hormone insulin, which helps regulate blood sugar levels. In type 1 diabetes mellitus, the immune system attacks and destroys insulin-producing cells in the pancreas. Increased blood sugar causes damage to the organs and blood vessels of different organs like kidneys, heart, nerves, and eyes.
  • Rheumatoid arthritis (RA)
    Rheumatoid arthritis is characterised by the attack of the joints by the immune system. This attack causes warmth, redness, stiffness, and soreness in the joints. Unlike osteoarthritis which affects older people, rheumatoid arthritis can start as early as you are 30 or even sooner.
  • Psoriasis/psoriatic arthritis
    The cells of the skin grow and then shed when they are not needed. Psoriasis causes abnormal multiplication of the skin cells and they start dividing too rapidly. The extra cells tend to accumulate and form inflamed, red patches with silver-white plaque scales on lighter skin. On people of dark colour, psoriasis can appear dark brown or purplish with grey scales. Around 30% of patients with psoriasis also develop stiffness, swelling, and joint pain. This condition is known as psoriatic arthritis.
  • Multiple sclerosis
    Multiple sclerosis causes damage to the myelin sheath which is the protective coating around the nerve cells. When the myelin sheath damages, the speed of transmission of messages between the brain and the spinal cord and from the rest of the body decreases. This damage can cause weakness, numbness, trouble walking, and balance problems. The disease comes in different forms and it tends to progress at different rates.
  • Systemic lupus erythematosus (SLE)
    Systemic lupus erythematosus is a disease that affects many organs including the kidneys, joints, heart, and the brain. Its common symptoms include joint pain, rashes, and fatigue.
  • Inflammatory bowel disease
    Inflammatory bowel disease or IBD refers to conditions that cause intestinal wall lining inflammation. Each type of inflammatory bowel disease affects a different part of the gastrointestinal tract.
  • Addison’s disease
    Addison’s disease affects the adrenal glands. These glands release hormones called aldosterone and cortisol as well as androgen hormones. If the cortisol is too low, the way how the body utilises and stores sugar and carbohydrates is affected. Aldosterone deficiency will cause loss of sodium and excess potassium in the bloodstream. The symptoms of Addison's disease include fatigue, weakness, weight loss, and low blood sugar.
  • Graves’ disease
    Grave’s disease is characterised by the attack of the thyroid gland in the neck, making it produce too many hormones. Thyroid hormones regulate the body’s energy usage, known as metabolism. Having excessive amounts of hormones revs up the activities of the body causing symptoms of nervousness, heat intolerance, a fast heartbeat, and weight loss. One possible symptom of this disease causes exophthalmos or bulging eyes.
  • Sjogren’s syndrome
    This medical condition attacks the glands of the body that lubricate the eyes and mouth. The main symptoms of Sjogren’s syndrome are dry mouth and eyes. However, it may also affect the skin or joints.
  • Hashimoto’s thyroiditis
    Hashimoto’s thyroiditis is characterised by the decreased production of thyroid hormone that causes a deficiency. Its symptoms include cold sensitivity, hair loss, and swelling of the thyroid gland.
  • Myasthenia gravis
    Myasthenia gravis is a disease that affects the nerve impulses that aid the control of muscles by the brain. When there is impairment of the communication from nerves to muscles, signals can’t direct the muscles to contract. Muscle weakness is the most common system which worsens with activity and improves with rest. Muscles that regulate eyelid opening, eye movements, swallowing, and facial movements are often involved.
  • Autoimmune vasculitis
    Autoimmune vasculitis occurs when the immune system attacks the blood vessels. The inflammation causes narrowing of the veins and arteries, allowing less blood to flow through them.
  • Pernicious anaemia
    Pernicious anaemia results in a deficiency of a protein produced by the lining of the stomach cells, which is an intrinsic factor required for the small intestine to absorb vitamin B12 from the food. Without adequate amounts of this vitamin, a person will develop anaemia and there will be alteration in the body’s ability to synthesize DNA properly. Pernicious anaemia is relatively more common in older adults.
  • Celiac disease
    Those who have celiac disease can’t consume foods that contain gluten, a protein that is present in rye, wheat, and other grain products. When gluten is present in the small intestine, the immune system attacks this part of the gastrointestinal tract and results in inflammation. Many patients have reported sensitivity to gluten.

The initial symptoms of most autoimmune diseases are very similar and include achy muscles, fatigue, low grade fever, hair loss, trouble concentrating, tingling and numbness in the hands and feet, skin rashes, and swelling and redness. Patients can also have their own unique symptoms. For example, type 1 diabetes results in extreme weight loss, thirst, and fatigue. IBD causes bloating, belly pain, and diarrhoea. When the symptoms increase, it is called flare-up and when the symptoms go away, it is called remission.

A single test cannot diagnose autoimmune diseases. A healthcare provider uses tests, reviews the symptoms you have, and conducts a physical examination so that a diagnosis is established. Doctors usually employ an antinuclear antibody test (ANA) when symptoms indicate an autoimmune disease. A positive test indicates that you might have one of these diseases. It will, however, not confirm which one you have exactly or if you have one for sure.

Other investigations to determine the presence of specific autoantibodies are required. Your healthcare provider might also perform some nonspecific investigations to check for the inflammation these diseases create in the body. A positive ANA blood test may indicate the presence of an autoimmune disease. Your healthcare provider may use your symptoms and the result of other investigations to confirm the diagnosis.

The Immunology Laboratory at Kokilaben Dhirubhai Ambani Hospital, Indore carries out laboratory testing and provides clinical consultation in several broad areas including immunodeficiencies, autoimmune diseases, allergic diseases, and immunoproliferative disorders. They also deal with some aspects of infectious disease serology. A lot of work is carried out together with the Microbiology, Molecular Diagnostics, Virology, and Haematology laboratories that ensure seamless consultations and diagnostic services are delivered for different clinical cases.

For evaluation of immunodeficiency, whether as a result of transplantation or congenital, the laboratory is responsible for testing forming the cusp of the research in the clinical arc. Apart from the services mentioned above, our laboratory provides reference diagnostics for both IgG and IgE related diseases with the help of state-of-the art methodologies.

The Department of Laboratory Medicine at Kokilaben Dhirubhai Ambani Hospital, Indore houses highly qualified and experienced medical professionals who are dedicated to quality service and patient care. Our reports are prepared by highly skilled professionals who pay detailed attention to ensure they are accurate and error-free. Our laboratory follows international protocols and quality standards to help provide precise results. Access the best laboratory in Indore which offers a diverse range of testing facilities with rapid results.

Our team provides high-end services through state-of-the-art infrastructure and follows the highest level of professionalism. Additionally, our staff engages in various training and competency evaluation programmes to be able to deliver precise and accurate results without compromising the quality. Our laboratories are computerised workplaces equipped with high-end software for Hospital Information systems (HIS) on which information regarding the patient’s medical condition and reports is uploaded. This software is accessible to all in-house doctors, thus making patient records accessible just with a few clicks.

Key Features of our Biochemistry and Immunology Laboratory

  • The quality management standards and protocols have achieved a six sigma score, apart from appreciation from both the International Federation of Clinical Chemistry and the American Association of Clinical Chemistry.
  • We strictly adhere to standard operating procedures and test each specimen with internal quality control samples. Before releasing the patient’s results, we make sure that the quality control results meet all statistical control criteria.
  • We actively participate in International External Quality Assurance Programs, which enhance the quality of our services and results.
  • We were the only Asian members in the IFCC six-member committee for Standardization of Thyroid Function Test (C-STFT) 2012-2014. Our Immunology and Biochemistry team members are continuously striving for the highest level of quality and standardisation for immunoassay and other laboratory parameters.
  • Our laboratories are equipped with cutting-edge diagnostic machines and other equipment. We follow a completely automated system ranging from bar coding to bilateral interfacing of test results which eliminates any manual errors.