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.

G-6-PD DEFICIENCY IS A SEX LINKED DISORDER AFFECTING MALES WHEREAS FEMALES ARE THE CARRIERS. MORE THAN 300 VARIANTS OF G6PD ARE KNOWN, HENCE DEFICIENCY CAN RANGE FROM ASYMPTOMATIC TO ACUTE HEMOLYTIC EPISODES. THESE EPISODES CAN BE TRIGGERED BY DRUGS, INGESTION OF FAVA BEANS, VIRAL AND BACTERIAL INFECTIONS.

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.

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.

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.