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.

Cytogenetic and Genetic Tests at The A-T Clinical Center at Johns Hopkins Hospital, Baltimore, MD

The A-T Clinical Center at Johns Hopkins Hospital provides comprehensive clinical, genetic and laboratory services for A-T. Neither clinical examination nor laboratory tests alone is sufficient to make the diagnosis of A‑T, and we believe that the diagnosis 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 Genetics Laboratory of The Kennedy Krieger Institute/The Johns Hopkins Hospital. The tests cost approximately $1,089.

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

This test is performed in the CLIA-certified DNA Diagnostic Laboratory at The Johns Hopkins Hospital. The test costs ~$4,000 and takes 8-10 weeks to complete. For families in which the A-T mutation(s) is already known, carrier testing costs $300/person and prenatal testing costs $422. These tests will be performed within 3 weeks of receiving the specimen. Insurance carriers will be billed for these genetic tests, but in many cases insurance will cover only a portion of the cost. The family will be responsible for the unpaid balance.

Questions should be directed to:

Jenny Wright, RN
Nurse Coordinator, A-T Clinical Center
Johns Hopkins Hospital
Baltimore, MD
Toll-free: 800-610-5691
Direct: 410-614-1922

Dr. Howard Lederman, PhD, MD
Director, A-T Clinical Center
Johns Hopkins Hospital
Baltimore, MD
Toll free: 800-610-5691

 

 

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