genetic Testing

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Genetic Testing

For detailed information on laboratories that provide genetic testing for A-T, please visit GTR: GENETIC TESTING REGISTRY.

Genetic Tests at the A-T Clinical Center at Johns Hopkins Hospital, Baltimore, MD

The A-T Clinical Center at Johns Hopkins Hospital (JHH) provides comprehensive clinical, genetic and laboratory services for A-T. The Clinical Center believes that the diagnosis of A-T is most accurate when laboratory results are evaluated within the clinical context. Therefore, with rare exceptions, the following diagnostic tests will be offered only to patients who have been evaluated by the specialists at the A-T Clinical Center.

Cytogenetics with G-banding (examination of chromosomes) and measurement of X-ray induced chromosome damage

These tests are performed in the CLIA-certified Post Natal Cytogenetics Lab at JHH. The cost is approximately $1,000.

ATM gene sequencing to detect the specific mutations causing A-T

This test is performed in the CLIA-certified DNA Diagnostic Laboratory at JHH. The cost is $2750 and takes approximately 4 weeks to complete. For families in which the A-T mutation(s) is already known, carrier testing and prenatal testing can be performed. For questions regarding these tests, please contact the A-T Clinical Center or the DNA Diagnostic Laboratory directly.

DNA Diagnostic Laboratory, JHH: 410.955.0438

A-T Clinical Center, JHH:

Jenny Wright, RN
Nurse Coordinator, A-T Clinical Center
Johns Hopkins Hospital
Baltimore, MD
Toll-free: 800.610.5691
Direct: 410.614.1922
jenny.wright@jhmi.edu

Dr. Howard Lederman, PhD, MD
Director, A-T Clinical Center
Johns Hopkins Hospital
Baltimore, MD
Toll free: 800.610.5691
hlederm1@jhmi.edu

 

 

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