Inherited Metabolic Disorders (IMDs) Who Should Be Tested? • Neonates with risk factors e.g. Neonate or child with following: • Suspicion of Non-Ketotic previous sibling death. • Hyperammonemia Hyperglycinemia (NKH) or serine deficiency disorders • Unusual sepsis • Encephalopathy • Onset of life threatening illness • Born healthy, but deteriorates • Metabolic acidosis between 12 to 72 hours of age after first feed. • Metabolic alkalosis • Patients with drowsiness or hypotonia • Failure to thrive • Urinary ketones positive • Neonatal seizures
• Peculiar urine odor
Metabolic Screening Inherited Metabolic Paired CSF / Plasma Panel Test Panel Amino Acids Test Panel Package A Package B Package C Rupees Rupees Rupees 1. Complete Blood Count 700 1. Urine Organic Acid 3,350 1. CSF Amino Acid 5,700 2. Urine Detail Report 380 2. Plasma Amino Acid 6,150 2. Plasma Amino Acid 6,150 3. Blood Glucose 370 4. Plasma Ammonia 1,750 Total 9,500 Total 11,850 5. Plasma Lactic Acid 2,000 20% Discount (1,900) 20% Discount (2,370) 6. Arterial Blood Gases 1,290 Total 7,600 Total 9,480 7. Electrolyte 1,450
Total 7,940
20% discount total (1,590)
6,350 Aga Khan University Hospital INHERITED METABOLIC DISORDERS CLINICAL LABORATORIES https://hospitals.aku.edu/medical-and-diagnostics/clinical-labs/