Newborn Screening

The State of Missouri’s Newborn Screening Program offers screening for 27 different health problems that may benefit from early diagnosis and treatment.  You can find more information (list and fact sheets) about the covered disorders on Missouri’s Newborn Screening Program’s website at http://www.dhss.mo.gov/NewbornScreening/

For follow-up recommendations or general questions about newborn screening, please contact Dawn Peck, MS, CGC at 573-884-5192 or Dr. Richard Hillman at 573-882-6991.

Newborn Screening Algorithms (ACT sheets) have been developed by a national work group that included experts in the various specialties and conditions involved in newborn screening for endocrine, hematological, genetic and metabolic diseases. You can find the ACT sheets by accessing the following link:
http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm

For more information about the specific classes of disorders detected by newborn screening, follow the links below:

• Expanded Newborn Screening by Tandem Mass Spectrometry (MS/MS)

• Galactosemia

• Congenital hypothyroidism or Congenital Adrenal Hyperplasia

• Hemoglobinopathies  

Expanded Newborn Screening

For follow-up recommendations or general questions about an abnormal newborn screen, please contact Dawn Peck, MS, CGC at 573-884-5192 or Dr. Richard Hillman at 573-882-6991.

For more information on disorders detected by tandem mass spectrometry (MS/MS), see the following websites:

http://www.dhss.mo.gov/NewbornScreening/

http://www.newbornscreening.info/disorders.html

Newborn Screening Algorithms (ACT sheets) have been developed by a national work group that included experts in the various specialties and conditions involved in newborn screening for endocrine, hematological, genetic and metabolic diseases. You can find the ACT sheets by accessing the following link:
http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm
 

FOLLOW-UP TESTING (Note: there may be other labs that perform the following tests that are not listed here)

Click here to download and print a request form for the University of Missouri’s Metabolic Screening Laboratory (offers quantitative amino acids, short chain fatty acids, branched chain amino acids, urine organic acids)

• Serum phenylalanine level
   

• Acylcarnitine profile & free and total Carnitine

          Baylor: http://www.bcm.edu/geneticlabs/
          Mayo Clinic: http://www.mayoclinic.org/laboratorygenetics-rst/metaboliteindex.html#A 

• Urine acylglycines

          Mayo Clinic: http://www.mayoclinic.org/laboratorygenetics-rst/metaboliteindex.html#A 

Division of Medical Genetics
University of Missouri Health Care
One Hospital Drive
Columbia, Missouri  65212
phone: 573-882-6991
fax: 573-884-3543