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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Can Blood Test Of A 2 Month Old Infant Give Accurate Result In PKU Test?

I have a 1 1/2 month baby born on June 6th. A blood sample was taken during 2nd week for PKU test. Today I received a call saying that the blood sample was received very late to the lab and no more good to test. Now they are asking to visit and give the sample. My question How accurate can the test results be at this point ?
Fri, 11 Sep 2015
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General & Family Physician,  's  Response
Hi,
Thanks for writing to HCM.
PKU test is done to detect inborn error of amino acid metabolism in infants called 'Phenylketonuria'. There are various ways in which the sample can be tested for phenylalanine levels.
Thin layer chromatography will do qualitative analysis and detects only the presence or absence of the compound.
If it is analysed in HPLC (High Performance Liquid Chromatography) or MS (Mass Spectrometry), then the quantity can be measured accurately.
Reference range of Phenylalanine in serum is:
Since the compound stability is poor, it would be better for you to go and give the sample as advised.
Hope the information provided is clear.
All the best.
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Can Blood Test Of A 2 Month Old Infant Give Accurate Result In PKU Test?

Hi, Thanks for writing to HCM. PKU test is done to detect inborn error of amino acid metabolism in infants called Phenylketonuria . There are various ways in which the sample can be tested for phenylalanine levels. Thin layer chromatography will do qualitative analysis and detects only the presence or absence of the compound. If it is analysed in HPLC (High Performance Liquid Chromatography) or MS (Mass Spectrometry), then the quantity can be measured accurately. Reference range of Phenylalanine in serum is: Since the compound stability is poor, it would be better for you to go and give the sample as advised. Hope the information provided is clear. All the best.