The DNA Analysis Laboratory offers DNA testing services as confirmatory testing in support of the Newborn Screening Program and for other individuals to determine carrier status or for mutational analysis. Tests are currently available for hemoglobinopathies, phenylketonuria, and galactosemia. There will be tests available for cmedium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the near future.

Test	Purpose	Availability
Hemoglobinopathy	Detect mutations causing hemoglobins S, C, E, D-Punjab, and O-Arab, and beta-thalassemia –29 and -88 point mutations	Available now
Phenylketonuria (PKU)	Identify mutations in phenylalanine hydroxylase	Available now
Galactosemia	Identify common mutations in galactose-1-phosphate uridyl transferase	Available now
MCADD	Identify common mutations in medium-chain acyl-CoA dehydrogenase	Coming soon

Specimen Submission Form (Use form G-1B)

Required Sections for DNA test requests:

Submitter Information
Patient Information
Payor Source
DNA Analysis—test(s) requested

Send specimens to:

Specimen Acquisition
Texas Department of State Health Services
Laboratory Services Section
1100 West 49^th Street
Austin, TX 78756-3194

For contract and other information, call (512) 458-7430

Hemoglobinopathies

Mutations for hemoglobin types S, C, E, D-Punjab, and O-Arab, and two beta-thalassemia point mutations are detected by polymerase chain reaction and restriction fragment length polymorphism. Specimens from the newborn screening program that test positive for specific hemoglobinopathies are referred for confirmatory DNA testing. Fee-for-service testing is also available. More information.

Phenylketonuria (PKU)

Mutations in the phenylalanine hydroxylase gene are identified by direct sequencing. Ninety-nine percent of PKU cases are caused by deficiencies of the enzyme phenylalanine hydroxylase. Specimens from the newborn screening program are referred for confirmatory DNA testing following receipt of a PKU diagnosis. Fee-for-service testing is also available. More information.

Galactosemia

Common mutations/variants in the galactose-1-p;hosphate uridyl transferase (GALT) gene are identified by a tetra-primer amplification refractory mutation system—polymerase chain reaction. Specimens from the newborn screening program that test abnormal for GALT enzyme activity are referred for confirmatory DNA testing. Fee-for-service testing is also available. More information.

^ Top

Last Updated September 27, 2007