DNA Analysis Laboratory
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 49th 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.
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