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Office of Newborn Screening
Testing & Specimen Collection – Abnormal Results
Did your baby receive abnormal test results? Learn more about testing, specimen collection, and find answers to some of the most frequently asked questions below:
- Results & Reference Ranges
- Follow-Up on Abnormal Results
- Follow-Up on Hemoglobin Traits
- Follow-Up on Unsatisfactory Specimens
- Referrals to Children's Rehabilitative Services (CRS)
- Flow Chart of the Newborn Screening Process
Results & Reference Ranges
Printed reports of newborn screening results are mailed to submitters and health care professionals listed on the specimen collection kit.
Each mailer has a disclaimer reminding providers that these results are from screening tests and are not diagnostic of any condition nor can they rule out the possibility of any screened disorder.
Normal results are reported by disorder group and do not show actual values. Abnormal results are given for a disorder listed within a disorder group with a footnote requesting appropriate action. If a result in a group is not specified as abnormal, it is normal. For example, there are six amino acid disorders in that group and if the phenylalanine result is shown, it is an abnormal test for PKU. The other five disorders are not shown and they are normal.
View sample mailers:
- Sample Mailer – Abnormal
- Sample Mailer – Normal
- Sample Mailer – Trait
- Sample Mailer – Unsatisfactory
Reference ranges are listed on the back of the mailer. Further information about analytes, assays and reference ranges by disorder are shown in table form:
Follow-Up on Abnormal Results
The Follow-up Section is responsible to contact primary care providers to ensure infants will receive medical evaluation, further testing and/or proper treatment. It is the Program's goal that no infant will be lost to follow-up.
Abnormal results are communicated to the Follow-Up Section by the Laboratory Section. From there, follow-up staff will take appropriate actions to locate the infant's primary care provider in a timely manner. The follow-up specialist assigned to the case will contact the primary care provider to ensure the infant will receive medical evaluation, further testing and/or proper treatment. Abnormal results are communicated to the primary care provider (and/or the designated nurse practitioner or medical assistant) by phone, by fax and by mail.
Follow-up specialists work closely with pediatric endocrinologists, metabolic geneticists, hematologists and cystic fibrosis specialists. These contracted specialists provide guidance to the follow-up case management team until resolution is reached. The contact information for these specialists is listed in Chapter 1.81 on page 16 of this document; primary care providers are strongly encouraged to consult these specialists on specific cases.
Follow-up specialists monitor progress made and only close the case when normal results are received or it is verified that the baby is receiving appropriate care. It is important that physicians communicate results of testing performed at other labs, and the final diagnosis to the follow-up specialist. If the follow-up specialist is not informed of normal confirmatory results, unnecessary phone calls and faxes may be made to the physician or the parents.
Providers may request assistance from the program's follow-up staff if they are having problems locating parents or obtaining repeat tests for infants. If the infant is no longer under their care, providers should notify the follow-up specialist immediately.
If the follow-up specialist is unable to locate the primary care provider; he or she will contact the parent in order to obtain the name of the physician taking care of the baby. At that time, parents are advised to contact their primary care provider for further testing. Lab results are not communicated to the parents, only the fact that the newborn screening results are not normal and further testing is required.
When the attempts to contact the parents are unsuccessful, the follow-up staff will coordinate efforts with submitters and other agencies in order to locate parents as soon as possible.
Follow-Up on Hemoglobin Traits
Letters are sent to the provider of record and the parents to notify of probable hemoglobin carrier status. There is no further follow-up beyond this notification. Parents are encouraged to talk to their primary care provider about the fact that the results indicate that the baby has a hemoglobin trait. The parent notification letter in English and Spanish directs them to contact the Office for Children with Special Health Care Needs or the Quest to Cure Foundation for more information and resources. Contact information for these organizations is in Chapter 6.3 on page 73.
Please see the chart of hemoglobin result mnemonics with descriptions of the probable results:
Follow-Up on Unsatisfactory Specimens
Submitters and health care providers are notified of unsatisfactory specimens by fax and by mail. Unsatisfactory specimens are not tested by the State Laboratory. The submitter (birth hospital or provider who ordered the screen) is responsible to contact the parents in order to make arrangement for the collection of another specimen as soon as possible.
The follow-up staff monitors unsatisfactory specimens to ensure that a subsequent valid specimen is received. If a valid specimen is not received within two weeks, the infant's medical home or provider who ordered the screen and parents will be notified by mail that a valid specimen has not been received and will urge them to make arrangements for the collection of another specimen as soon as possible. A reminder letter will be sent if a valid specimen is not received thirty days after the date the first letter was mailed.
Follow up will be discontinued once a valid specimen indicating normal results are received, or thirty days following the issuance of the reminder letter.
Referrals to Children's Rehabilitative Services (CRS)
The Children's Rehabilitative Services (CRS) Program provides medical treatment, rehabilitation and related support services as a carve out to Medicaid recipients with qualifying chronic and disabling conditions under age 21. Care is provided to more than 26,000 children and youth with special health care needs (CSHCN) through four family-centered, multi-specialty interdisciplinary clinics. CRS covers over 350 chronic and disabling health conditions including cerebral palsy, cleft lip/cleft palate, spina bifida, cystic fibrosis, sickle cell anemia, metabolic and endocrine disorders, and many congenital anomalies. Many CRS recipients are medically fragile and require complex care from multiple pediatric physician sub-specialists that are frequently in short supply. CRS manages a statewide network of specialists to provide timely access to CSHCN throughout the state. Strategies to ensure access include the use of field clinics in which specialists travel to remote areas of the state, as well as using innovative techniques such as telemedicine to minimize travel for both families and physicians.
The CRS Program is administered by the Arizona Health Care Cost Containment System through a contract with Arizona Physicians IPA.
Arizona Physicians IPA-Children's Rehabilitative Services (APIPA-CRS) does not determine eligibility based on income. To be eligible for APIPA-CRS services a child must:
- have certain medical conditions;
- be under age 21;
- be an U.S. citizen or qualified alien; and
- live in Arizona.
APIPA-CRS recipients must be members of an AHCCCS acute care health plan or an Arizona Long Term Care System (ALTCS) plan, and some recipients may have private insurance as well. APIPA-CRS will coordinate care with the recipient's acute care health plan, ALTCS or private insurance providers.
To apply for services, anyone can fill out an application including a family member, doctor, or health plan representative. Along with a completed referral/application, medical records that document the child's CRS eligible condition must be submitted. When someone other than a parent/guardian or a family member completes an application, this is called a referral.
Referrals/applications to the CRS Program are initiated by submitting a CRS Referral/Application Form. The CRS Referral/Application Form can be obtained from many sources, including physicians' offices, and the APIPA-CRS website.
If you need help completing the APIPA-CRS referral/application or getting information to send in with the application packet, ask APIPA-CRS Member Services for help.
Completed applications can be mailed or faxed to:APIPA-CRS
Attn: Eligibility and Enrollment
PO Box 33320
Phoenix, AZ 85067-3320
Fax Number: 1-866-623-1692
The APIPA-CRS Referral/Application Form shall contain the following:
- The name, address, and phone number of the referral source;
- The relationship of the person completing the referral/application form to the applicant;
- The applicant's name, date of birth, social security number, gender, home address and contact information, race, citizenship, and preferred language;
- If the applicant is a child, the name of at least one parent/guardian of the applicant;
- If known to the referral source:
- The applicant's diagnosis;
- The applicant's list of allergies if applicable;
- The applicant's primary care physician or, if the applicant does not have a primary care physician, the name of a health care organization at which the applicant receives medical care;
- Whether the applicant is enrolled in AHCCCS (Title XIX or Title XXI) or has other health insurance;
- Whether the applicant has ever received CRS services before;
- Whether the applicant is a U.S. citizen or qualified alien; and
- If a physician has not evaluated the applicant, the reason the referral source believes the applicant may be eligible for CRS.
Documentation to accompany the referral/application form for applicants who have been evaluated by a physician:
- Documentation from a physician who has evaluated the applicant that supports the medical diagnosis; and
- Diagnostic test results that support the medical diagnosis.
Within fourteen (14) calendar days of receipt of a referral/application, APIPA-CRS will determine whether an applicant is eligible for CRS. The applicant's parent/guardian and referral source will be notified in writing of the decision.
Flow Chart of the Newborn Screening Process
A summary of the follow-up process is show in a flow chart: