TSH (THYROID STIMULATING HORMONE) IS A HORMONE PRODUCED BY THE PITUITARY GLAND THAT REGULATES THYROID FUNCTION. IT STIMULATES THE THYROID GLAND TO PRODUCE THYROID HORMONES, WHICH CONTROL METABOLISM, BODY TEMPERATURE, AND HEART RATE. ABNORMAL TSH LEVELS CAN INDICATE THYROID DISORDERS SUCH AS HYPERTHYROIDISM (OVERACTIVE THYROID) OR HYPOTHYROIDISM (UNDERACTIVE THYROID). BY MEASURING TSH, HEALTHCARE PROVIDERS CAN DIAGNOSE AND MONITOR THYROID CONDITIONS.

A 17-Hydroxyprogesterone (17-OHP) test measures the level of this hormone in your blood. 17-OHP is a precursor to cortisol, a hormone essential for managing stress. Primarily used to diagnose Congenital Adrenal Hyperplasia (CAH), a genetic disorder affecting the adrenal glands, this test helps assess the bodys ability to produce cortisol.Elevated 17 - OHP levels can indicate CAH, while low levels might suggest other adrenal gland issues.This test is crucial for newborn screening and monitoring treatment for individuals with CAH.

IT IS USED TO DEFINITIVELY DIAGNOSE G6PD DEFICIENCY, A GENETIC DISORDER THAT CAN CAUSE A SEVERE TYPE OF ANEMIA CALLED HEMOLYTIC ANEMIA IN RESPONSE TO CERTAIN MEDICATIONS, FOODS, OR INFECTIONS.

BIOTINIDASE DEFICIENCY IS AN AUTOSOMAL RECESSIVE DISODER CAUSED BY MUTATIONS IN THE BIOTINIDASE GENE. AGE OF ONSET AND CLINICAL PHENOTYPE VARY DEPENDING ON THE AMOUNT OF RESIDUAL BIOTINIDASE ACTIVITY. THE COMBINED INCIDENCE OF PROFOUND AND PARTIAL BIOTINIDASE DEFICIENCY IS 1 IN 61000. THE CARRIER FREQUENCY IN THE GENERAL POPULATION IS 1 IN 120. THIS ASSAY IS USED FOR DIAGNOSING BIOTINIDASE DEFICIENCY. IT IS ALSO USEFUL FOR FOLLOW UP TESTING FOR CERTAIN ORGANIC ACIDURIAS.

GALACTOSEMIA IS AN AUTOSOMAL RECESSIVE DISORDER CAUSED BY INABILITY TO METABOLIZE GALACTOSE WHICH IS DERIVED FROM LACTOSE (MILK SUGAR). THE ACCUMULATION OF GALACTOSE CAN CAUSE FEEDING PROBLEMS, VOMITING, SEPSIS, DIARRHOEA, DEHYDRATION AND HYPOGLYCEMIA. CATARACTS AND MENTAL RETARDATION DEVELOP GRADUALLY.

NEWBORN SCREENING PROVIDES AN OPPORTUNITY FOR EARLY DETECTION OF SICKLE CELL DISEASE, SOME SEVERE FORMS OF THALASSEMIA AND MANY COMMON VARIANTS (HBC, HBE, HBDPUNJAB ETC). IN OUR COUNTRY, HEMOGLOBINOPATHIES ARE AN IMPORTANT CAUSE OF GENETIC MORBIDITY AND MORTALITY. IT IS ESSENTIAL THAT INFANTS WITH THESE CONDITIONS ARE RELIABLY DIAGNOSED SO THAT THE EARLY TREATMENT AND NECESSARY CLINICAL FOLLOW UP IS INITIATED.

CYSTIC FIBROSIS IS A MULTISYSTEM DISEASE WHICH WAS THOUGHT TO BE RARE IN INDIA, BUT PUBLISHED REPORTS INDICATE IT TO BE MORE PREVALENT AS THE DISEASE IS UNDERDIAGNOSED OR MISSED IN THE MAJORITY OF CASES. CYSTIC FIBROSIS USUALLY PRESENTS IN INFANCY & IN 10- 20% OF CASES, THE SYMPTOMS APPEAR SOON AFTER BIRTH. IMMUNOREACTIVE TRYPSINOGEN (IRT) IS USED TO SCREEN NEWBORNS FOR INCREASED RISK OF CYSTIC FIBROSIS

PHENYLKETONURIA (PKU) IS THE MOST COMMON AUTOSOMAL RECESSIVE INHERITED DISORDER OF AMINO ACID METABOLISM CAUSED BY DEFICIENCY OF ENZYME PHENYLALANINE HYDROXYLASE. THIS ASSAY IS USEFUL FOR EVALUATING PATIENTS WITH HYPERPHENYLALANINEMIA AND MONITORING EFFECTIVENESS OF DIETARY THERAPY.