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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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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 recent program changes.

If we can be of assistance, please contact the Laboratory Services Section Newborn Screening Laboratory at (512) 776-7333 or 1-888-963-7111 x 7333. Thank you for your continued support.

Quick Links:



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Biochemistry and Genetics - NEWBORN SCREENING PANEL
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 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)

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)

Cystic Fibrosis (CF)

Severe Combined Immunodeficiency (SCID)

Reporting

Results Available: Results available within 4-7 working days of receipt in the laboratory.

Contact: Laboratory Reporting Section (512) 776-7578

Current users of the Texas Newborn Screening Web Application may log in to access results here.

If not a user of the Texas Newborn Screening Web Application, visit NBS Remote Data Services Home for information on signing up.

Reference

Method/Procedure:

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

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

Fluorometric Assay to detect: Galactosemia

Colorimetric Microtiter Assay to detect: Biotinidase Deficiency

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

Immunofluorometric Microtiter Assay and Multiplex Polymerase Chain Reactions to detect: Cystic Fibrosis

Real-time Quantitative Polymerase Chain Reaction to detect: Severe Combined Immunodeficiency (SCID)

Reference Range: Normal

Limitations:

Transfusion may alter all Newborn Screening results.

Total Parenteral Nutrition (TPN) (given to sick or premature infants) may cause inaccurate results.

EDTA, Citrate and heparin anticoagulants must not be used during the collection 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. Result Report Examples: Normal (PDF 226kb), Abnormal (PDF 232kb).

Diagnostic Information:

Amino Acid, Fatty Acid Oxidation, and Organic Acid Disorders: All specimens are screened to detect abnormalconcentrations 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 Oxidation 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 for a fee, upon request. Contact DSHS at (512) 776-7333 for further information.

Cystic Fibrosis: All specimens are screened to detect elevated concentrations of Immunoreactive Trypsinogen (IRT) as an indicator of Cystic Fibrosis. Specimens screened for IRT that meet certain retest requirements are also screened to detect the presence of any of 40 mutations and 2 variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.

Severe Combined Immunodeficiency: All specimens are screened to detect reduced presence or absence of T-cell receptor excision circles (TREC) as an indicator of SCID.

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.

To order forms and supplies, contact Laboratory Supply:
Phone: 512-776-7661
Fax: 512-776-7672
Email: ContainerPrepGroup@dshs.state.tx.us

Order Form for NBS Supplies (PDF 23kb)

Causes for Rejection include:

  • use of expired specimen collection device
  • no date of collection provided
  • 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)

For examples and tips on how to avoid the most common unsatisfactory qualities, click here.

To view a newborn screening specimen collection training video and specimen collection training materials, visit the Healthcare Provider Resources page.

Specimen Submission

Completely fill in all patient demographic information on the Specimen Collection Card (NBS3 or NBS4).

Note: Mother or Baby Lastname, DOC and means of determining age of baby at time of collection are required fields.

DRIED FILTER PAPER BLOOD SPECIMEN SHIPPING REQUIREMENT:

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!

Note:  If placing more than 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.

For more information on Newborn Screening:

Newborn Screening Laboratory

Newborn Screening Clinical Care Coordination

Billing

CPT Codes:  S3620 and 83788

Newborn Screening CPT Code FAQ

Fees: $33.50 (NBS4)

 



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Biochemistry and Genetics - HEMOGLOBIN DNA TEST: Hb, S, C, E, D or O-Arab, Common Beta-Thalassemia Mutation, Beta-Globin Gene Sequencing

Test Includes

Hemoglobin S, C, D-Los Angeles, E, and O-Arab, two β-thalassemia mutations (-29, A→G and –88, C→T), Beta-Globin Gene sequencing

Reporting

Results Available: Within 7 days of receipt          Turnaround Time:  4 working days

Contact: (512) 776-6699

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 DSHS 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

G-1B form ordering information

Causes for Rejection include:

  • use of expired specimen collection device
  • no date of collection provided
  • 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:

View a specimen collection training video for collecting on filter paper

See Collection tips for Venipuncture

See Instructions on how to complete a G-1B form

DRIED FILTER PAPER BLOOD SPECIMEN SHIPPING REQUIREMENT:

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!

Note:  If placing more than 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:

U.S. Postal regulations require Triple containment of whole blood specimens.

  • Refrigerate sample until shipment.
  • Whole blood specimens must be shipped overnight at room temperature or refrigerated and received within 7 days of collection.

See Instructions on how to triple contain a specimen for shipping

Billing

CPT Codes: HbS, C, E, D, or O-Arab or Common Beta-thalassemia Mutation: 81401


Beta-Globin Gene Sequencing: 81404

Fees: Included in the Newborn Screening Panel. Also available fee for service. See Laboratory Fee schedule.




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Biochemistry and Genetics - PHENYLKETONURIA (PKU) - DIETARY MONITORING

Test Includes

Phenylketonuria (PKU) - Dietary Monitoring (including phenylalanine and tyrosine)

Reporting

Results Available:within 2-3 working days after receipt of specimen

Contact: Laboratory Reporting Section (512) 776-7578

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 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 and the collection instruction sheet 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, contact Laboratory Supply:
Phone: 512-776-7661
Fax: 512-776-7672
Email: ContainerPrepGroup@dshs.state.tx.us

Order Form for PKU Monitoring Laboratory Supplies (PDF 89kb)

Causes for Rejection Include:

  • use of expired specimen collection device
  • no date of collection provided
  • 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

Specimen Collection Training Video

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.

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.

DRIED FILTER PAPER BLOOD SPECIMENS SHIPPING REQUIREMENT:

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!

Note:  If placing more than 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: 83789

Fees: $16.61

 



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Biochemistry and Genetics - GALACTOSEMIA: COMMON MUTATION PANEL

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) 776-6699

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

G-1B form ordering information

Causes for Rejection include:

  • use of expired specimen collection device
  • no date of collection provided
  • 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:

View a specimen collection training video for collecting on filter paper

See Collection tips for Venipuncture

See Instructions on how to complete a G-1B form

DRIED FILTER PAPER BLOOD SPECIMENS SHIPPING REQUIREMENT:

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!

Note:  If placing more than 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: 81401

Fees :See Laboratory Fee schedule.




< Return to Table of Contents   or   ^ Top of page

Biochemistry and Genetics - CYSTIC FIBROSIS: COMMON MUTATION PANEL

Test Includes

Cystic fibrosis transmembrane conductance regulator (CFTR) mutation panel.

Reporting

Results Available: Within 5 days of receipt          Turnaround Time: 3 working days

Contact: (512) 776-6699

Reference

Method/Procedure: Multiplex polymerase chain reactions and fluorescent signal detection

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 Cystic Fibrosis DNA testing is performed in support of the Newborn Screening Program at DSHS and for other individuals. Forty mutations and 2 polymorphisms are currently included in the panel. The mutation detection rate is estimated to be 38.7-89.12% depending on the patient's ethnicity. The residual risk of carrying a CFTR mutation not included on the panel is approximately 0.4-0.9% across most ethnic groups. 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

G-1B form ordering information

Causes for Rejection include:

  • use of expired specimen collection device
  • no date of collection provided
  • 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:

View a specimen collection training video for collecting on filter paper

See Collection tips for Venipuncture

See Instructions on how to complete a G-1B form

DRIED FILTER PAPER BLOOD SPECIMEN SHIPPING REQUIREMENT:

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!

Note:  If placing more than 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: 81220

Fees: See Laboratory Fee schedule.

 

< Return to Table of Contents   or   ^ Top of page

Biochemistry and Genetics – MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) MUTATION Panel
Test Includes
Medium chain acyl-CoA dehydrogenase (MCAD) mutation panel

Reporting

Results Available: Within 7 days of receipt          Turnaround Time: 4 working days
Contact: (512) 776-7158

Reference

Method/Procedure: Allelic Discrimination
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 MCAD DNA testing is performed in support of the Newborn Screening Program at DSHS and for other individuals. Four mutations are currently included in the panel: K304E, L59F, R123K, and N169D. These common mutations account for approximately 86% of the MCAD alleles in the Texas 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

G-1B form ordering information

Causes for Rejection Include:

  • use of expired specimen collection device
  • no date of collection provided
  • 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:

View a specimen collection training video for collecting on filter paper

See Collection tips for Venipuncture

See Instructions on how to complete a G-1B form

DRIED FILTER PAPER BLOOD SPECIMEN SHIPPING REQUIREMENT:

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!

Note:  If placing more than 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: 81401 Fees: See Laboratory Fee schedule.


Last updated March 24, 2014