Screening for 100+ Inherited Metabolic Diseases?

[fragrance850]

IEM:Inborn Errors of Metabolism or IMD: Inherited Metabolic Disease.
There are private labs to have them tested. And they claim they can test
out and screen more than 100 types of IMDs by urine samples using
advanced gas chromatography-mass spectrometry (GC-MS) method. One of
them is a branch of famous Japanese Matsumoto Institute of Life Science.

Do you think it is necessary to do the tests? Anyone has experience on
that?

Thank you

[neetusays]

Newborn screening is important as early diagnosis let doctor's begin with early treatment. This is important as when the baby starts showing symptoms of the disease the disease has already started having harming effect on the baby.

My cuz had gotten PNBS done for his newborn which is a urine based test for metabolic disorder for 100+ disorders. These diseases are rare but why take a chance. What if you are the rare one who has it???

[meenuway]

On the same Japanese technology by Matsumoto PreventiNe Life Care in India in offering Direct to Home newborn metabolic screening to any part of the world for more than 100 Inborn Errors of Metabolism. The technology is based on GC/MS which identifies components in minutest concentration making the diagnosis very reliable.

The automation of GC/MS technology has revolutionized the newborn screening space which was originally ruled by the blood spot screening. Now a painless procedure of sample collection and higher specificity and sensitivity has made the urine based screening being routinely used for diagnosis. Direct to Home model makes it even more accessible with all treatment support in case of positive case being diagnosed

[ChitChatNine]

Geez, I don't know .. maybe also post over on Rare Diseases ?  they may have some more info for you?

C~