Texas Department of State Health Services

NBS Laboratory Services - Newborn Screening Tests

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The information below is designed to give you the latest information on the DSHS Newborn Screening Laboratory including; tests performed, telephone contact numbers, and procedures for the submission, collection, and handling of specimens. The information has been updated to reflect the February 2007 program expansion.

If we can be of any assistance to you please contact the Laboratory Services Section Newborn Screening Laboratory at (512) 458-7333 or 1-888-963-7111 x 7333. Thank you for your continued support.

Jump down to:
Newborn Screening Panel
Phenylketonuria (PKU) – Dietary Monitoring 
Hemoglobinopathy Testing (DNA Confirmation)
Phenylketonuria (PKU) - DNA Confirmation
Galactosemia Testing (DNA Mutation Panel)

 

Biochemistry and Genetics
Newborn Screening Panel

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Test Includes
Amino acid disorders:
argininosuccinic acidemia (ASA), citrullinemia (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU) and tyrosinemia type I (TYR-I)
Fatty acid 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)
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)
Galactosemia (GALT)
Biotinidase deficiency (BIOT)
Congenital hypothyroidism (CH)
Congenital adrenal hyperplasia (CAH)
Hemoglobinopathies: sickle cell anemia (Hb S/S), sickle beta thalassemia (Hb S/A), and sickle-hemoglobin C disease (Hb S/C)

Reporting

Results Available: Preliminary results available within 3-4 working days of receipt in the laboratory.
Contact: : Laboratory Reporting Section (512) 458-7578

Reference

Method/Procedure:

Tandem Mass Spectrometry to detect: Amino Acid Disorders, Fatty Acid Disorders, and Organic Acid Disorders

Immunofluorometric Microtiter Assays to detect: Galactosemia, Congenital Hypothyroidism, and Congenital Adrenal Hyperplasia

Colorimetric Microtiter Assay to detect: Biotinidase Deficiency

Isoelectric Focusing (IEF) and High Pressure Liquid Chromatography (HPLC) to detect: Abnormal Hemoglobinopathies

Reference Range: Normal
Limitations: 
  • Transfusion may alter all Newborn Screening results.
  • Total Parenteral Nutrition (given to sick or premature infants) may cause inaccurate results.
  • EDTA and Citrate anticoagulants must not be used during the collections of the specimen. Anticoagulants will cause inaccurate test results.
  • Hematocrit levels, prematurity, and age of the infant may affect the interpretation of results.
  • Inaccurate and incomplete information may affect the interpretation of results.
Interpretation:  Included in the Result Report. Click here for an example of the NBS Result Report with guidance.

Diagnostic Information:

Amino Acid, Fatty Acid, and Organic Acid Disorders
All specimens are screened to detect elevated concentrations of amino acids, free carnitines, and acylcarnitines and to evaluate their relationship with each other. These measurements provide analyte concentration profiles that may aid in the detection of several metabolic disorders. Amino acid markers are typically used to identify Amino Acid Disorders, while free carnitine and acylcarnitine markers help identify Fatty Acid Disorders and Organic Acid Disorders.

Galactosemia
All specimens are screened to detect decreased levels of galactose-1-phospate uridyl transferase (GALT) as an indicator of galactosemia.

Congenital Hypothyroidism
All specimens are screened to detect thyroxine (T4) concentrations as an index of thyroid function. Specimens screened for T4 that meet certain retest requirements are also screened to detect elevated concentrations of thyroid stimulating hormone (TSH) (approximately 10% of daily run).

Congenital Adrenal Hyperplasia
All specimens are screened to detect elevated concentrations of 17-hydroxy progesterone (17-OHP) which could signify congenital adrenal hyperplasia (CAH).

Biotinidase Deficiency
All specimens are screened to detect reduced presence or absence of biotinidase (BIOT) activity as an indicator of biotinidase deficiency.

Hemoglobinopathies
All specimens are screened to detect clinically significant hemoglobinopathies and thalassemias including sickle cell disease and sickle beta thalassemia. Specimens testing positive for certain hemoglobinopathies are forwarded for DNA testing. Mutations for hemoglobin types S, C, E, D and two beta-thalassemias can be detected by polymerase chain reaction and restriction fragment length polymorphism. Family studies for abnormal results are available through the reference program. Contact DSHS at (512) 458-7333 for further information.

Specimen/Supply Requirements

Specimen Collection: Heel Stick between 24-48 hours and 1-2 weeks of age.
Required Specimen: Dried Filter Paper Blood Spots 
Volume/Amount Required: 5 dried blood spots

Specimen Collection Card:
NBS3 (Medicaid/CHIP/Charity form) or NBS4 (Paid form)

Specimen Collection Card Shelf Life: 
The expiration date is printed on the filter paper collection area, the collection instruction sheet and the patient demographic information pages. Do Not Use Expired Cards.

 Specimen Collection Card Storage (prior to use):
Store in original wrapping and stack in a manner (vertically) to avoid compression of the filter paper.

Causes for Rejection: The newborn screening specimen has to be received on non-expired forms by the laboratory by the 14th day after collection, should have at least 3 adequately filled circles, and complete and accurate demographic information.
Additional Causes for Rejection include:

  • insufficient blood has been submitted
  • blood did not completely soak through the filter paper
  • improper capillary use
  • specimen is contaminated or discolored
  • specimen is caked, clotted or layered on the filter paper
  • missing or invalid patient demographic information
  • form serial number does not match that of the blood circles
  • specimen is too old upon receipt (received 14 or more days following collection)
  • no blood samples received with request form
  • specimen submitted on improper collection form
  • serum separation from improper drying or collection
  • specimen torn or damaged in transit
  • laboratory accident (repeat screen needed)

Specimen Submission

Completely fill in all patient demographic information on the Specimen Collection Card (NBS3 or NBS4).  Note: Mother’s last name, birth weight and date of specimen collection are required fields.
Click here for detailed information and guidance on NBS specimen collection
Shipping Requirements:U.S. Postal regulations require: Double containment of dried blood filter paper specimens. Ensure specimens are thoroughly dried prior to placing in envelope.

1st containment: Use the attached wrap-around cover with printed universal biohazard symbol. Do not put biohazard labels on outside of envelope!

2nd containment: Use Special Envelope designed for shipping of Newborn Screening specimens.  Do not put specimens in plastic bags!

Notes:  If placing more that one specimen in an envelope, rotate each specimen 180° such that the blood specimens do not touch.  Ship specimens at room temperature within 24 hours of specimen collection. Avoid temperatures greater than 100°F.

Billing

CPT Codes:  S3620 and 83788 Fees: $29.50 (NBS4)


Biochemistry and Genetics
Phenylketonuria (PKU) – Dietary Monitoring

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Test Includes:: Phenylketonuria (PKU) - Dietary Monitoring
(including phenylalanine/tyrosine ratio)

Reporting

Results Available: within 2-3 working days after receipt of specimen
Contact: Laboratory Reporting Section (512) 458-7578

Reference

Method/Procedure: Tandem Mass Spectrometry
Reference Range: Normal

Limitations

  • Missing or invalid patient demographic information may affect the interpretation of results
Interpretation:  See result report.
Diagnostic Information: Phenylketonuria (PKU) is caused by the body's inability to breakdown the amino acid phenylalanine.  Specimens for PKU monitoring are screened by Tandem Mass Spectrometry to detect elevated concentrations and ratios of the amino acids phenylalanine and tyrosine.

Specimen/Supply Requirements

Required Request Form: G-1B
Specimen Collection: Heel Stick or Fingerstick collected on filter paper.
Volume/Amount Required: Two completely filled ½ inch dried blood filter paper spots.

Required Supplies: 

PKU Filter Paper Kit:
Dried Blood Spot Specimen Collection Card

Specimen Collection Card Shelf Life: 
The expiration date is printed on the filter paper collection area, the collection instruction sheet and the patient demographic information pages. Do Not Use Expired Cards!

Specimen Collection Card Storage (prior to use):
Store in original wrapping and stack in a manner (vertically) to avoid compression of the filter paper.

To Order Forms and Supplies:
Call Laboratory Supply: (512) 458-7661 
or  Fax: (512) 458-7672

Causes for Rejection:
The newborn screening specimen has to be received on non-expired forms by the laboratory by the 21st day after collection, should have at least 2 completely filled circles, and complete and accurate demographic information.

Additional Causes for Rejection Include:

  • insufficient blood has been submitted
  • blood did not completely soak through the filter paper
  • improper capillary use
  • specimen is contaminated or discolored
  • specimen is caked, clotted or layered on the filter paper
  • missing or invalid patient demographic information
  • specimen is too old upon receipt (received 21 or more days following collection)
  • no blood samples received with request form
  • specimen submitted on improper collection form
  • serum separation from improper drying or collection
  • specimen torn or damaged in transit
  • laboratory accident (repeat screen needed)

Specimen Submission

-  Completely fill in all patient demographic information on the Required Request Form (G-1B). 

-  Important Patient Demographic Information: Patient first and last name, date of specimen collection, and date of birth.

Dried Blood Spot Specimen Collection: 
-  To view a specimen collection poster click:  http://www.dshs.state.tx.us/newborn/pdf/specimen.pdf  

Specimen Drying Instructions:
-  Allow filter spots to air-dry completely (4 hrs.) on a horizontally level, nonabsorbent, open surface at ambient temperature (15-22° C).  Keep the specimen away from heat and direct sunlight.

Shipping Requirements: U.S. Postal regulations require: Double containment of dried blood filter paper specimens. Ensure specimens are thoroughly dried prior to placing in envelope.

1st containment: Use the attached wrap-around cover with printed universal biohazard symbol. Do not put biohazard labels on outside of envelope!

2nd containment: Use Special Envelope designed for shipping of Newborn Screening specimens.  Do not put specimens in plastic bags!

Notes:  If placing more that one specimen in an envelope, rotate each specimen 180° such that the blood specimens do not touch.  Ship specimens at room temperature within 24 hours of specimen collection. Avoid temperatures greater than 100°F.temperatures greater than 100°F.

Billing

CPT Code: 83789 Fees: $24.00



Biochemistry and Genetics
Hemoglobinopathy Testing (DNA Confirmation)
 
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Test Includes: Hemoglobin S, C, D-Los Angeles, E, and O-Arab, two β-thalassemia mutations (-29, A→G and –88, C→T)

Reporting

Results Available: Within 7 days of receipt          Turnaround Time:  4 working days
Contact: (512) 458-7158

Reference

Method/Procedure: Polymerase Chain Reaction - Restriction Fragment Length Polymorphism (PCR-RFLP)
Limitations: Molecular based testing is highly accurate.  However, rare diagnostic errors may occur.  Errors in the interpretation of results may occur if information provided is inaccurate or incomplete.
Interpretation:  Available on the result report.
Diagnostic Information: The hemoglobinopathy confirmatory DNA testing is performed in support of the Newborn Screening Program at TDSHS and for other individuals.  Mutations for Hemoglobins S, C, D, E, and O-Arab, and two common beta-thalassemia point mutations are identified by polymerase chain reaction and restriction fragment length polymorphism.  Test results should not be used as a diagnostic test but should be interpreted in the context of clinical findings, family history, and other laboratory data.

Specimen/Supply Requirements

Specimen Collection: Heel Stick or Venipuncture

Required Specimen: Dried filter paper blood spots or EDTA anticoagulated (purple top tube) whole blood
Volume/Amount Required: One ½ inch dried filter paper blood spot or 1mL whole blood
Required Request Form: G-1B.  To view example and order form visit: http://www.dshs.state.tx.us/lab/MRS_forms.shtm#Microbiological

Causes for Rejection include:

  • Coagulated blood or insufficient amount of blood
  • Patient information incomplete or invalid
  • Patient name on specimen does not match name on request form

Specimen Submission

Specimen Collection: 

Shipping Requirements:

Dried filter paper blood specimens shipping requirement:

  • US Postal regulations require Double containment:

    1st containment: Cover the dried blood spots with the attached flap.
    2nd containment:  Use Special Envelope designed for shipping of Newborn Screening specimen.

  • If placing more that one specimen in an envelope, rotate each specimen 180° such that the blood specimens do not touch.
  • Ship specimens at room temperature within 24 hours of specimen collection. Avoid temperatures greater than 100°F.

Whole blood specimen shipping requirements: 

Billing

CPT Codes: :  83890, 83892, 83894, 83898, 83912 Fees: A fee is charged to submitters for non-Medicaid and non-Title V patients.


Biochemistry and Genetics
Phenylketonuria (PKU) - DNA Confirmation

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Test Includes: Mutational analysis of the 13 exons and flanking regions of phenylalanine hydroxylase gene

Reporting

Results Available: Within 6 weeks of receipt          Turnaround Time:  30 working days
Contact: (512) 458-7158

Reference

Method/Procedure: Polymerase Chain Reaction and DNA Sequencing
Limitations: Molecular based testing is highly accurate. However, rare diagnostic errors may occur.  Errors in the interpretation of results may occur if information provided is inaccurate or incomplete.
Interpretation:  Available on the result report.
Diagnostic Information: The PKU confirmatory DNA test is performed in support of the Newborn Screening Program at DSHS and for other individuals.  Mutational analysis is carried out by automated DNA sequencing of the phenylalanine hydroxylase gene.  Of the >400 known mutations in this gene, approximately 95% can be detected using this methodology.  Test results should not be used as a diagnostic test but should be interpreted in the context of clinical findings, family history, and other laboratory data.

Specimen/Supply Requirements

Specimen Collection: Heel Stick or Venipuncture
Required Specimen: Dried filter paper blood spots or EDTA anticoagulated (purple top tube) whole blood
Volume/Amount Required: Five ½ inch dried filter paper blood spot or 3mL whole blood
Required Request Form: G-1B. For an example and ordering information visit: http://www.dshs.state.tx.us/lab/MRS_forms.shtm#Microbiological

Causes for Rejection include:

  • Coagulated blood or insufficient amount of blood
  • Patient information incomplete or invalid
  • Patient name on specimen does not match name on request form

Specimen Submission

Specimen Collection: 

Shipping Requirements:

Dried filter paper blood specimens shipping requirement:

  • US Postal regulations require Double containment:
    • 1st containment: Cover the dried blood spots with the attached flap.
    • 2nd containment:  Use Special Envelope designed for shipping of Newborn Screening specimen.
  • If placing more that one specimen in an envelope, rotate each specimen 180° such that the blood specimens do not touch.
  • Ship specimens at room temperature within 24 hours of specimen collection. Avoid temperatures greater than 100°F.

Whole blood specimen shipping requirements: 

Billing

CPT Codes::  83890, 83891, 83894, 83898, 83904, 83912 Fees: A fee is charged to submitters for non-Medicaid and non-Title V patients.

 

Biochemistry and Genetics
Galactosemia Testing (DNA Mutation Panel)

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Test Includes:Galactose-1-phosphate uridyl transferase (GALT) mutation panel

Reporting

Results Available: Within 4 days of receipt          Turnaround Time:  2 working days
Contact: (512) 458-7158

Reference

Method/Procedure: Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR)
Limitations: Molecular based testing is highly accurate.  However, rare diagnostic errors may occur.  Errors in the interpretation of results may occur if information provided is inaccurate or incomplete.
Interpretation:  Available on the result report.
Diagnostic Information: The Galactosemia DNA testing is performed in support of the Newborn Screening Program at DSHS and for other individuals.  Four mutations/variants are currently included in the panel: Q188R, S135L, K285N, and N314D. These common mutations and frequent variants account for approximately 70% of the galactosemia alleles in the US population.  Test results should not be used as a diagnostic test but should be interpreted in the context of clinical findings, family history, and other laboratory data.

Specimen/Supply Requirements

Specimen Collection: Heel Stick or Venipuncture

Required Specimen: Dried filter paper blood spots or EDTA anticoagulated (purple top tube) whole blood
Volume/Amount Required: One ½ inch dried filter paper blood spot or 1mL whole blood
Required Request Form: G-1B. For an example and ordering information visit: http://www.dshs.state.tx.us/lab/MRS_forms.shtm#Microbiological

Causes for Rejection include:

  • Coagulated blood or insufficient amount of blood
  • Patient information incomplete or invalid
  • Patient name on specimen does not match name on request form

Specimen Submission

Specimen Collection: 

Shipping Requirements:

  • Dried filter paper blood specimens shipping requirement:
  • US Postal regulations require Double containment:
    • 1st containment: Cover the dried blood spots with the attached flap.
    • 2nd containment:  Use Special Envelope designed for shipping of Newborn Screening specimen.
  • If placing more that one specimen in an envelope, rotate each specimen 180° such that the blood specimens do not touch.
  • Ship specimens at room temperature within 24 hours of specimen collection. Avoid temperatures greater than 100°F.

Whole blood specimen shipping requirements: 

Billing

CPT Codes: 83890, 83894, 83900, 83912 Fees: :  A fee is charged to submitters for non-Medicaid and non-Title V patients.