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Disease Name: Newborn Screening Abnormal Findings


Quick Links

Please review the Idaho Reportable Disease Rules (IDAPA 16.02.10) for the most up-to-date information.

Idaho Administrative Code concerning testing of newborns:  https://adminrules.idaho.gov/rules/2008/16/0212.pdf

Phenylketonuria (PKU)

The Idaho Children's Special Health Program (CSHP) provides consultation, information, technical assistance and referral services for the families of children who have chronic illnesses and disabilities. CSHP works with families, providers and communities to help establish and maintain a system of information, provide referral and follow-up services. Children with qualifying medical conditions are most often referred to CSHP by hospitals and pediatricians or family physicians. Enrollment in the PKU program is not restricted by age or insurance status, though services are limited for adults over 18 years of age. For more information call 877-887-3075, or call the Idaho CareLine, dial 2-1-1.


Overview / Case Definition

Abnormal newborn screenings of the following are considered reportable.

 

Biotinidase deficiency

Congenital Hypothyroidism

Galactosemia

Maple Syrup Urine Disease

Phenylketonuria (PKU)

 


Restrictions

None


Reporting

Within 1 working day

Reportable by Healthcare and Labs:

Reportable by Food Service Facility:

Suspect Reportable: Yes

Reporting Timeframe: Within 1 working day



Diagnosis / Testing

 

 

Newborn screening (NBS) followed by diagnostic testing.


Treatment


Additional Information

Idaho Administrative Code concerning testing of newborns:  https://adminrules.idaho.gov/rules/2008/16/0212.pdf

Phenylketonuria (PKU)

The Idaho Children's Special Health Program (CSHP) provides consultation, information, technical assistance and referral services for the families of children who have chronic illnesses and disabilities. CSHP works with families, providers and communities to help establish and maintain a system of information, provide referral and follow-up services. Children with qualifying medical conditions are most often referred to CSHP by hospitals and pediatricians or family physicians. Enrollment in the PKU program is not restricted by age or insurance status, though services are limited for adults over 18 years of age. For more information call 877-887-3075, or call the Idaho CareLine, dial 2-1-1.


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