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 USUALLY IS ASYMPTOMATIC AT BIRTH, BUT AFFECTED INFANTS DEVELOP JAUNDICA, DIARRHOEA, VOMITING & FAILURE TO GAIN WEIGHT. IF THE DISEASE REMAINS UNDETECTED, IT LEADS TO LIVER DISEASE, CATARACT, MENTAL RETARDATION AND EVEN DEATH. BACTERIAL INFECTIONS ARE COMMON & CAN LEAD TO SEPSIS WITH INGESTION OF MILK IN THE AFFECTED CHILD.