Conjugated jaundice investigations - part 2

Warning

Second Stage Investigations

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(Considering history, examination, laboratory findings and specialist advice). 

NOTE: these investigations should only be carried out selectively after discussion with the attending neonatal consultant.

Investigation

Comments

Results

Hepatobiliary scintigraphy

Pre-treat with phenobarbital 5mg/kg nocte for at least 3 days, and continue to scan until 24 hours post isotope, if there has been no excretion before then.

 

Liver biopsy

 

 

Syphilis serology

 

 

Viral PCR

e.g. herpes, CMV

 

Eye examination

For embryotoxon, chorioretinitis, septo-optic dysplasia

 

X-ray spine

Looking for butterfly vertebrae

 

Cardiology opinion

If murmur

 

Tests for rare disorders

 

 

Lactate

Flouride oxalate tube

 

Ammonia

Lithium heparin tube on ice (RHSC)

 

Pyruvate

 

 

Uric acid, Carnitine

 

 

Very long chain fatty acids

 

 

Urine and serum for inborn errors of bile salt metabolism

 

 

Acyl carnitines

 

 

Alpha fetoprotein

 

 

Isoelectric focussing of transferrin

 

 

Karyotype, cholestasis gene panel, mitochondrial DNA mutations and mtDNA depletion syndrome and/or perforin expression       

 

 

White cell enzymes either glycogen or lysosomal storage

 

 

CSF for protein and lactate

 

 

Tubular re-absorption of phosphate

 

 

Ferritin and transferring saturation

 

 

MRI head

 

 

Muscle biopsy for mitochondrial cytopathy

 

 

Bone marrow for storage disorders

 

 

Skin biopsy for fibroblast culture

 

 

 

Editorial Information

Last reviewed: 14/07/2023

Next review date: 14/07/2033

Author(s): David Quine.