Newborn blood spot screening

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New Disorders

Dear Healthcare Providers and Laboratory Personnel:

In regard to Sections 25-4-1004(1)(c)(I-IV), C.R.S., “Newborn Screening and Second Newborn Screening,” the Colorado Board of Health has approved the addition of select lysosomal storage disorders (LSDs) on all Colorado newborns. Specifically, for mucopolysaccharidosis (MPS-1), X-linked adrenoleukodystrophy (X-ALD), and Pompe disease. 

The CONBSP population based testing and reporting for Pompe and MPS-1 went live on June 21, 2022. The analyte for Pompe is an enzyme acid alpha-glucosidase (GAA).  For MPS-1 the analyte is an enzyme alpha-L-Iduronidase (IDUA).  Abnormal results may require additional genetic testing and biochemical testing prior to notifying the families.  Report language will reflect that the testing is not complete and additional testing is being performed.  Once confirmed the reported result will be updated to ‘normal’ or ‘abnormal’.  Abnormal results will be called out to the primary care provider and specialists at Children’s Hospital Colorado.

Population phase testing for X-ALD will begin this fall.  X-ALD will run as part of a panel on new mass spectrometers. Currently, we are validating the new instruments and reagents.   The analyte for X-ALD is C26:0 Lysophosphatidylcholine (C26:0-LPC).  Normal ranges for this analyte will be available in early September. Abnormal results may require additional testing. Report language will reflect that the testing is not complete and additional testing is being performed.  Once confirmed, the report will be updated to reflect a ‘normal’ or ‘abnormal’ result.  Abnormal results will be called out to the primary care provider and specialists at Children’s Hospital Colorado.

If you have any questions please contact Greg Bonn, Newborn Screening Program Manager, (720) 830-8992 or gregory.bonn@state.co.us

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Colorado Newborn Screening Program (CONBSP) Transition to E-Reports 

Hello Newborn Screening colleagues:

As mentioned in previous monthly newsletters, the Colorado Newborn Screening Program (CONSP) will fully transition newborn screening reports to be obtained via E-report. Due to staffing and supply chain issues, this change will be effective on July 1, 2022. CONBSP will no longer send out physical mailers or fax the daily reports for the newborn screen to any health facilities. The only exception includes mailing abnormal reports and sending reports to health facilities that have an established courier pick-up from the State Lab. Reports can still be requested by phone or fax by submitting a completed results request form. Prior to calling or faxing, check E-portal. If the report is unavailable, contact the birthing facility.

By July 1, 2022, sign up for an E-report account to access the portal to obtain newborn screen reports. Send the completed agreement to cdphe_nbs_software@state.co.us.

Sincerely,

Newborn Screening

Phone 303-692-3675

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