Table 2.
Recommended Tests | Indication | Recommended Age of Diagnostic Testing | |||
---|---|---|---|---|---|
Blood and Urine Tests | <3 mo. | 3 mo. to 3 yrs. | 3 mo. to 18yr. | 4 to 18 yr. | |
Herpes blood PCR | Systemic Herpes infection | X | X | ||
Serum amino acid profile | Urea cycle; other metabolic defects | X | X | ||
Ferritin | GALD screen | X | |||
Lactate, pyruvate | Mitochondrial screen | X | X | ||
Plasma acylcarnitine profile | FAO defects | X | X | ||
Urine succinylacetone | Tyrosinemia | X | |||
Enterovirus blood PCR | Systemic Enterovirus infection | X | X | ||
Acetaminophen level | Acetaminophen exposure | X | |||
Hepatitis A virus IgM | Hepatitis A | X | |||
Hepatitis B Surface antigen | Hepatitis B | X | |||
EBV VCA IgM or PCR | EBV infection | X | |||
Antinuclear antibody | Autoimmune disease screen | X | |||
Anti-smooth muscle ab | Autoimmune disease screen | X | |||
Liver kidney microsomal ab | Autoimmune disease screen | X | |||
Immunoglobulin G | Autoimmune disease screen | X | |||
Ceruloplasmin | Wilson disease screen | X | |||
24-hour Urine copper | Wilson disease screen | X | |||
Historical Information | |||||
Drug history | APAP other drug or HDS exposure | X | X | ||
Confirm newborn screen results | Galactosemia and tyrosinemia | X | |||
Confirm maternal Hepatitis B serology | Hepatitis B in newborn | X | |||
Procedures | |||||
Abdominal ultrasound with doppler | Vascular anomalies | X | X | ||
Echocardiogram | Cardiac dysfunction | X | X | ||
Optional Diagnostic screening | |||||
Blood culture | Sepsis | ||||
Viral testing for adenovirus, enterovirus, HHV-6, parvovirus, influenza | Viral infection | ||||
Hepatitis E IgM | Hepatitis E | ||||
Soluble IL2R, ferritin, triglyceride level | HLH | ||||
Liver copper, Wilson gene mutation analysis | Wilson disease | ||||
MRI for extrahepatic iron deposition | GALD | ||||
Urine orotic acid | Urea cycle defects |
Ab: antibody, APAP: acetaminophen, EBV: Epstein Barr Virus, FAO: fatty acid oxidation defects, GALD: gestational alloimmune liver disease, HHV-6: Human Herpes Virus-6, HLH: hemophagocytic lymphohistiocytosis, HDS: herbal, dietary supplement, IgM: immunoglobulin M, IL2R: interleukin 2 receptor, MRI: Magnetic resonance imaging, PCR: polymerase chain reaction, VCA: viral capsule antigen