Newborn Screening Disorders.

1. Make sure all the sources are POST 2013.

2. You CANNOT use the book “Clinical Chemistry: Principles, Techniques and Correlations (Seventh Edition) by authors Bishop, Fody and Schoeff. All other Clinical Chemistry books besides the one mentioned above is okay to use as long as it is post 2013 edition.

3. make sure sources of information are periodicals, newspapers,professional journals and textbooks (POST 2013. Some suggestions for journals for you are: Medical Laboratory Observer, Clinical Laboratory Science, Laboratory Medicine, Journal of Clinical Laboratory Immunology, Clinical Chemistry Texts, ASCP (American Society for Clinical patology), AACC (American Association for Clinical Cemistry) and the Internet (POST 2013 Sources)

What do you have to do?

You have to write an essay on Newborn Screening. Please explain briefly the nature of the newborn screening diseases and how you test for it. Also summarize the disease/disorders in a table categorized based on the disorder (genetic disorder, metabolic disorder). Make sure you put a greater importance on the following diseases among others: phenylketoneurea (PKU), MSUD, Tyrosinemia, MCAD,Hypothyroidism, Sickle Cell Disease, Systic Fibrosis, Galactos Emia, Congenital Adrenal Hyper Plasia, Gaucher Disease and Tay-Sachs disease.

Discuss and summarize the latest method used to assay those newborn screening disorders. (some methods are: tandem mass spectrometry (MS/MS), CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), HPLC (High Performance Liquid Chromatograohy), Fluorometic Technique, Dried Blood Spot Screening (Guthrie Test)- please keep in mind that these are just a few suggestions and they are NOT ALL THE LATEST. Please add more as there may be recent methods created.



– what is new born screening? Why do you do these tests?

-Newborn Screening Finding.

Newborn Screenings and its importance:

-Who gets this test?

-When and where?

Disorders (metabolism and genetic) associated with newborn screening:

-Briefly describe all the diseases associated.

-immuno-assay for the disorders


Grading Rubric:

1. Quantity of New Information: 3 points

2. Quality of content (Depth of Subject matter, reliable sources, information cited correctly) 3 points

3. Bibliography (citation, recent publication, number of resources) 3 points

3. Spelling, Grammar. 1 point