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    Laboratory Services Section
    MC 1947
    PO Box 149347 Austin, TX 78714-9347
    1100 W. 49th Street
    Austin, TX 78756-3199

    Phone: (512) 776-7318
    Fax: (512) 776-7294

    Phone Us Toll Free at:
    (888) 963-7111, ext. 7318

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Frequently Asked Questions About Newborn Screening

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Return to Newborn Screening Laboratories

General Information on Newborn Screening
Information on Expansion of the Screening Program
Information for providers on specimen collection and billing

General Information on Newborn Screening

Q. What is the newborn screening program?

A. The Texas Department of State Health Services Newborn Screening Program consists of testing, follow-up and case management. All babies born in Texas are required to have two rounds of screening tests for certain inheritable and other disorders. The Newborn Screening Program identifies those infants who have an abnormal screen at birth or shortly after birth. An abnormal laboratory result triggers follow-up and case management to ensure that the baby receives confirmatory testing and treatment, if needed. Early treatment can prevent serious complications such as growth problems, developmental delays, deafness or blindness, mental retardation, seizures or even early death.


Q. Why is newborn screening important?

A. Most children born with these problems are from healthy families and appear healthy at birth. Parents who have already had healthy children do not expect any problems with birth defects. Because every baby is tested soon after birth, any child who may have a disorder is identified early and can get early care.

Q. How are newborns tested?

A. A tiny amount of blood is taken from the baby's heel about 24 hours to 48 hours after birth or before leaving the hospital. A second blood sample is taken from one to two weeks later. The blood sample is put on a piece of absorbent paper, dried and sent to the Texas Department of State Health Services laboratory in Austin for special screening tests.

Q. What conditions does the newly expanded screening program cover?

A. Newborns are now screened for the following 27 disorders:

Six amino acid disorders: argininosuccinic academia (ASA), citrullinemia (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU) and tyrosinemia type I (TYR-I); 
Two endocrine disorders:
congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH); 
Five fatty acid oxidation disorders: medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD), carnitine uptake defect (CUD), long-chain L-3- hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD), trifunctional protein deficiency (TFP) and very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD); 
Three hemoglobinopathies:
sickle cell anemia (Hb S/S), sickle beta thalassemia (Hb S/A), and sickle-hemoglobin C disease (Hb S/C); 
Nine organic acid disorders:
3-methylcrotonyl-coenzyme A carboxylase deficiency (3-MCC), beta-ketothiolase deficiency (BKT), glutaric acidemia type I (GA-I), 3-hydroxy 3-methylglutaric aciduria (HMG), isovaleric academia (IVA), methylmalonic acidemia (Cbl A,B form), methylmalonic acidemia (MUT), multiple carboxylase deficiency (MCD) and propionic acidemia (PROP); and 
other disorders:
galactosemia (GALT) and biotinidase deficiency.

 

Click here for a list of disorders and brief descriptions: Quick Reference to Newborn Screening Disorders

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Q. Why are two screens required in Texas?

A. It is standard practice to take the first sample early, during the hospital stay, to detect some of the disorders at the earliest possible opportunity. However, in some cases, the first sample can be taken too early and a disorder may only be detected on the second screen. Studies indicate that six to eight percent of hypothyroidism cases are detected on the second screen. The Board of Health has acted on this information and opted to provide a model program for the detection of these disorders.

Q. Who does the screening?

A. The health care provider takes the blood sample. The DSHS public health laboratory in Austin does the screening tests.

Q. What are the statistics for screening in Texas?

A. DSHS receives about 760,000 newborn screening blood specimens annually. About 12,000 of these show abnormal results and require follow-up. About 400 infants actually are diagnosed with one of the seven disorders annually. Of these, about 20 infants had a normal first screen but an abnormal second screen. With the expansion we estimate an additional 3,000 abnormal results a year and a total of 600 diagnosed cases annually.


Q. What happens if a disorder is found during screening?

A. If the results of the screening tests are positive for any disorder, DSHS case management follow-up staff contacts the health care provider to quickly relay these critical results and then works with the health care provider and parents to ensure the infants get recommended follow-up screens or confirmatory testing.

Q. Can infants with any of these disorders be cured?

A. There is no cure for these conditions. Early treatment may prevent or control the serious effects of these disorders.

Q. Can parents opt out of having their newborn screened?

A. Yes. A parent can refuse the screen for religious reasons.

Q. Who pays for the screening?

A. The health care provider or facility sending the specimen to the laboratory buys the specimen collection kit for private pay patients. How these patients are billed is determined by the commercial insurance carrier. DSHS provides specimen collection kits at no cost to those covered by Medicaid, CHIP, and Title V. DSHS are reimbursed by Medicaid, CHIP, and Title V.

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Q. Do newborns receive a hearing screening?

A. All newborns in Texas born in a hospital or birthing center must either be offered a hearing screen or referred to a facility that offers one. About 98 percent of all newborns are screened for hearing. When the law was enacted in 1999, some birth facilities in sparsely populated areas of the state were given an exemption from the law. Since that time, most exempt birth facilities in Texas have chosen to offer the hearing screen, and there currently are fewer than 10 birth facilities that do not provide the hearing screen. Those that do not offer the screen refer families to facilities that do provide the hearing screen. Families who have home births should ask their midwife for a referral to a local pediatric audiologist for a hearing screen.

Q. What can parents do to get a hearing screen for their newborn?

A. If parents are not offered a hearing screen or a referral for a hearing screen for their child or do not receive the results of the screen, they should ask their health care provider about it.

Q. How many infants are affected by hearing problems?

A. In Texas, two to three infants a day are born with a hearing loss. Unidentified infant hearing loss affects language, learning and brain development. Intervention within six months after birth minimizes developmental delays.

 

Information on Expansion of the Newborn Screening Program

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Q. Why is the program being expanded?

A. Nationally, the American College of Medical Genetics (ACMG), with the support of the federal Health Resources and Services Administration (HRSA), recommends that all states screen for a specific set of disorders. In Texas, the 79th Legislature in 2005 mandated that DSHS expand to the ACMG-recommended panel of disorders as funding allowed.

Q. When will the program expansion be completed?

A. Screening for 27 disorders has begun.

Q: Are there any other newborn screening disorders infants can be screened for?

A: The DSHS panel includes all of the core disorders recommended by the American College of Medical Genetics (ACMG) except for Cystic Fibrosis. There are other laboratories that offer Cystic Fibrosis screening and a few additional secondary disorders detectable by tandem mass spectrometry. You may request information on additional newborn screening tests from the laboratories at the following link:
http://genes-r-us.uthscsa.edu/resources/newborn/commercial.htm
Remember, you must also submit a newborn screening specimen to the DSHS laboratory.

Q. Will screening for these new disorders mean more blood will be needed from babies?

A. No, the amount of blood required will remain the same.

Q. How much money is appropriated for expansion of the DSHS Newborn Screening Laboratory to do the additional testing?

A. Approximately $3.1 million was appropriated for startup of the expansion. Approximately $633,000 a year was appropriated for charity testing.

Q. How much will the DSHS Laboratory expansion cost?

A. The appropriated amount, $3.1 million, is the cost for laboratory startup of the newborn screening expansion.

Q. Will the expansion mean an increase in the price of the test and materials?

A. The cost for test and materials was $19.50, and now with the expanded panel, testing, materials and follow-up cost $29.50 per kit.

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Q. What needed to be done for the expansion?

A. The laboratory had to be made ready to receive new technology. New staff had to be hired and trained to perform the additional tests and to follow up on abnormal results.

Q. With so few cases diagnosed, why is the screening of all children important?

A. While ultimately a small number of children are identified with disorders, the impact of these conditions on the physical and emotional health and financial resources of these children and their families would be much more significant without early identification and treatment.

Q. What will be the turnaround time for the new testing?

A. Preliminary abnormal results will be reported to case management and follow-up staff within three days. Reports of final results will be available within five days. This time is based on the receipt of a quality specimen with complete information.

Q. Why not add screening for cystic fibrosis?

A. The 79th Texas Legislature in 2005 mandated that DSHS expand to the ACMG-recommended panel of disorders as funding allowed and appropriated $3.1 million. The startup funding allows 20 additional disorders to be added to the screening panel. Cystic fibrosis startup would require an additional $2 million to $3 million.

Q. How many additional laboratory staff members were added to the laboratory for the expansion?

A. A total of 17 staff members were added: 13 in the analytical area, one in demographic entry area and three in the specimen receiving area.

Q. How many new instruments were installed?

A. The DSHS laboratory installed 10 Tandem Mass Spectrometers (MS/MS).


Q. What was the cost-effectiveness study and what were the results?

A. HB 790 of the 79th Legislature required DSHS to conduct a study to determine whether it is more cost-effective to contract with a private vendor to conduct newborn screening tests or to conduct them at the DSHS laboratory. A six-member team evaluated the two proposals submitted by vendors in response to the Request for Proposal issued by DSHS. The evaluation team concluded unanimously that it is more cost-effective for the DSHS laboratory to conduct newborn screening tests.

Information for Providers on Specimen Collection and Billing

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Q. Will the DSHS expanded screen duplicate the testing on the expanded screen being offered at commercial laboratories?

A. The DSHS panel includes all of the core disorders recommended by the American College of Medical Genetics (ACMG) except for Cystic Fibrosis. Other laboratories may screen for Cystic Fibrosis and a few additional secondary disorders detectable by tandem mass spectrometry.  Click here for a list of disorders and brief descriptions: Quick Reference to Newborn Screening Disorders

Q. When does the screening have to be performed?

A. TDSHS rules implementing state law mandate two screens. The first screen is required prior to the newborn's discharge from the hospital. The second screen is required at one to two weeks of age.

Q. Why two screens? Some states require only one.

A. It is standard practice to take the first sample early, during the hospital stay, to detect some of the disorders at the earliest possible opportunity. However, in some cases, the first sample can be taken too early and a disorder may only be detected on the second screen. Studies indicate that six to eight percent of hypothyroidism cases are detected on the second screen. The Board of Health has acted on this information and opted to provide a model program for the detection of these disorders.

Q. What is a screening test kit?

A. The newborn screening test kit includes a specimen collection device, a form for demographic information and a special envelope.

Q. Will TDSHS pay postage?

TDSHS has never paid postage for the newborn screening test kits and does not contemplate doing so in the future.

Q. Does one kit cover two screens per child?

A. No. One kit per screen is required. Each child will require two screening test kits.

Q.How do I order the screening kits?

A. You need to call (512-458-7661) or fax (512-458-7672) the laboratory to request an order form for newborn screening kits and supplies. You must also specify the total number of kits needed by the two categories below:
1) Medicaid/CHIP/charity care
2) Non-Medicaid/non-CHIP/non-charity care

The laboratory will send you the kits and supplies which you will use to collect the samples and submit to the laboratory. A packing slip will be included with the shipment. An invoice will be sent later. Payment will be due 120 days from shipment date. There will not be a charge for kits for Medicaid-eligible, CHIP, or charity care newborns.
Envelopes and submitter labels are also provided at no charge. If you need mailing envelopes and/or labels with submitter address, please indicate the quantity needed on your order form.

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Q. How do you define charity care?

A. The charity care newborn is a patient who is not insured and is not covered or eligible to be covered for newborn screening services by Medicaid, CHIP, or any other government program.

Q. Who will be billed for newborn screening test kits?

A. TDSHS will bill the person or facility that orders kits for non-Medicaid, non-CHIP, or non-charity care newborns.

Q. Wouldn't it be easier for TDSHS to bill the patient?

A.TDSHS considered billing patients, but found that administrative costs would more than double the cost of the service. Minimizing administrative costs by charging providers for screening kits represented the most cost-effective approach to recover funds.

Q. What HCPCs codes should be used for the expanded screening?

A: In addition to whatever code presently used, 83788 is the code for tandem mass spectrometry qualitative. Currently, the code often used is S3620. The two codes can be used in combination.

Q. When will you bill for the screen?

A. Every time a provider orders screening test kits for non-Medicaid, non-CHIP, non-charity care patients, an invoice will be included with the shipment. Payment is due 120 days from shipment date.

Q. Who pays if the screening test kit is destroyed or rendered unusable?

A. If an accident occurs in your office which makes a kit unusable, you will be responsible for paying for another kit.

Q. What if the screening test kit is no good?

A. Each screening test kit qualifies as a medical device. If a kit does not perform as it should, please notify Cathy Edmonson, Quality Assurance Officer, by e-mail or call (512-458-7111 ext. 2055). TDSHS will replace defective kits free of charge.

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Q. If TDSHS requests a repeat newborn screen because the first results are equivocal or unsatisfactory, will the screening test kit be provided free of charge?

A. All screening kits for Medicaid-eligible, CHIP, and charity care newborns will be provided free of charge, no matter how many times the infant is tested. For others, you must purchase a kit each time the newborn is tested.

Q. In the past, TDSHS has performed follow-up monitoring and confirmatory serum testing at no charge. Will there now be a fee for these services?

A. TDSHS no longer offers confirmatory serum testing for PKU, but will continue to provide folllow-up monitoring free of charge for those that do not have other means to pay, such as insurance, Medicaid, or CHIP.

Q. May STAR plans use the Medicaid screening kits?

A. Yes. STAR plans are Medicaid managed care plans. Patients seen under these plans are eligible for Medicaid. You will not be charged for kits for Medicaid-eligible, CHIP, and charity care newborns.

Q. Can I use the mother's Medicaid number for the newborn?

A. Yes. The mother's Medicaid number may be used on the form to indicate that the newborn is Medicaid-eligible. TDSHS recognizes that it may take months to issue a Medicaid number for the newborn.

If you have further questions, please feel free to contact the Texas Department of State Health Services Laboratory Services Section at 512-458-7318.

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Last updated May 07, 2010