screening & confirmatory tests

Introduction

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