screening & confirmatory tests

Newborn screening: - PKU: blood phenylalanine; PCR/southern blot for phenylketonuria - congenital hypothyroidism: - TSH; T3,T4, free thryroxine index, free T4, free T3 - galactosemia: galactose-1-phosphate uridylyltransferase (GALT) - sickle cell disease - biotinidase deficiency - congenital adrenal hyperplasia - maple syrup urine disease - homocystinuria - tyrosinemia - cystic fibrosis - toxoplasmosis - HIV1: ELISA; Western Blot, HIV-1 RNA - syphilis: RPR, FTA; MHA-TP, TP-PA - tuberculosis: PPD, AFB stain; culture & sensitivity - UTI: urinalysis; culture & sensitivity - pneumonia: sputum gram statin; culture & sensitivity - prostate cancer: PSA; free PSA, biopsy - colon cancer: fecal occult blood; colonoscopy - breast cancer: mammography; biopsy - cervical cancer: Pap Smear; colposcopy with biopsy - diabetes mellitus: fasting blood glucose; repeat same - dyslipidemia; fasting lipid panel; no confirmation indicated - SLE: ANA; anti-Sm antibody - RA: RF; anti-citrullinated antibody