This is a comprehensive assay for the detection of Amino acids, Organic
acids & Fatty acid oxidation disorders. Inborn errors of metabolism (IEM)
are a complex and heterogeneous group of disorders due to enzymatic defect in
single pathway of intermediary metabolism. Symptoms of these disorders are not
clinically evident in the newborn period. Some of the conditions included in
newborn screening programs are only detectable after irreversible damage has
been done. Newborn screening helps to identify these disorders in asymptomatic
stage and timely management can be initiated.
Test Code: LG135
Test Details: *Amino Acids *Acylcarnitines *Adenosine *2’-deoxyadenosine
*Molar Ratios
Sample Type: 1 drop of heel prick blood each on 3 spots of filter paper
available from Labs. Ship refrigerated or frozen. Clinical details and drug
history must accompany sample.
Method: Tandem Mass Spectrometry
TAT / Reported on: Reported on: 3rd working Day by 7:00 p.m.
Precaution
Clinical details and drug history must accompany sample.