Ataxia-Telangiectasia
Use
Ataxia-telangiectasia is a neurogenetic condition with progressive cerebellar ataxia, telangiectasias, and increased cancer risk, particularly in childhood. This test helps identify sequencing mutations in the ATM gene to confirm a diagnosis of ataxia-telangiectasia and assess hereditary cancer risk in carriers.
Special Instructions
This test is part of family variant testing offered at no additional cost. Family members of patients who undergo full single gene sequencing at Ambry Genetics and are found to have a pathogenic variant can be tested within 90 days of the original report date.
Limitations
Intronic variants beyond 5 base pairs from the splice junction are not reported unless clinically significant. Sequencing may miss some mutations due to either pseudogene interference or insufficient read depth. Coverage issues are resolved by Sanger sequencing.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Refer to ambrygen.com/specimen-requirements for detailed instructions on proper specimen collection, handling, and shipping.