Ataxia Telangiectasia Syndrome via the ATM Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3049 ATM 81408 81408,81479 $540 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3049ATM81408 81408, 81479 $540 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Ataxia telangiectasia (A-T) is characterized by early onset (1-4 years) progressive cerebellar ataxia, telangiectasias of the conjunctivae, oculomotor apraxia, choreoathetosis, immunodeficiency, slurred speech, frequent infections, and an increased risk of cancers, especially leukemia and lymphoma. Other solid tumors do occur. Cancer risk is increased by 60-180 fold over population risk (Thoms et al. Experimental Dermatology 16:532–544, 2007). Other features can include premature aging (e.g. grey hair) and insulin-resistant diabetes mellitus. Individuals with A-T are usually sensitive to ionizing radiation (e.g. radiotherapy). Non-classic forms can occur with adult-onset A-T and A-T with early-onset dystonia. Unlike A-T, which is caused by homozygous or compound heterozygous mutations in the ATM gene, heterozygous carriers of an ATM causative mutation are at an increased risk of breast cancer (Concannon et al. Cancer Res 68:6486–91, 2008) and heart disease (Swift et al. N Engl J Med 325:1831–1836, 1991). The time of onset and progression is variable between and within families of affected individuals. The prevalence of A-T has been reported to be 1:40,000-100,000 in the United States (Gatti. GeneReviews. 2010).

Genetics

Ataxia-telangiectasia is an autosomal recessive disorder that is caused by mutations in the ATM gene. ATM encodes a serine protein kinase (ATM) that is involved in DNA repair via phosphorylation of downstream proteins. It senses double-stranded DNA breaks, coordinates cell-cycle checkpoints prior to repair, and recruits repair proteins to damaged DNA sites (Taylor et al. DNA Repair 3(8-9):1219-1225, 2004). Mutations in ATM result in defective checkpoint cycling. Over 500 private causative mutations are described with no common hot spots for mutations. In North America most affected individuals are compound heterozygotes for two ATM mutations. However, founder ATM mutations have been observed in several populations (Gatti. GeneReviews. 2010).

Clinical Sensitivity - Sequencing with CNV PG-Select

Approximately 90% of individuals with Ataxia-telangiectasia have detectable mutations via sequencing of the ATM gene (Gatti. GeneReviews. 2010).

Approximately 1-2% of patients have large genomic deletions involving the ATM gene that can be detected (Gatti. GeneReviews. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the ATM gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals who are suspected of Ataxia-telangiectasia. Individuals with a family history of A-T and who want to know their carrier status of ATM mutations, especially since female relatives of individuals with ataxia-telangiectasia and who are carriers of an ATM mutation have a 2-5 fold increased risk of breast cancer (Swift et al. New Eng J Med 316: 1289-1294, 1987; Thompson et al. J Nat Cancer Inst 97: 813-822, 2005). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ATM. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Gene

Official Gene Symbol OMIM ID
ATM 607585
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Ataxia-Telangiectasia Syndrome AR 208900
Familial Cancer Of Breast AD 114480

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Citations

  • Concannon P, Haile RW, Borresen-Dale A-L, Rosenstein BS, Gatti RA, Teraoka SN, Diep AT, Jansen L, Atencio DP, Langholz B, Capanu M, Liang X, et al. 2008. Variants in the ATM Gene Associated with a Reduced Risk of Contralateral Breast Cancer. Cancer Research 68: 6486–6491. PubMed ID: 18701470
  • Gatti R. 2010. Ataxia-Telangiectasia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301790
  • Swift M, Morrell D, Massey RB, Chase CL. 1991. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N. Engl. J. Med. 325: 1831–1836. PubMed ID: 1961222
  • Swift M, Reitnauer PJ, Morrell D, Chase CL. 1987. Breast and other cancers in families with ataxia-telangiectasia. N. Engl. J. Med. 316: 1289-1294. PubMed ID: 3574400
  • Taylor et al. (2004). "Ataxia-telangiectasia-like disorder (ATLD)—its clinical presentation and molecular basis." DNA Repair  3(8-9):1219-25. PubMed ID: 15279810
  • Thompson et al. (2005) "Cancer risks and mortality in heterozygous ATM mutation carriers." J Nat. Cancer Inst 97: 813-822. PubMed ID: 15928302
  • Thoms et al. (2007). "Lessons learned from DNA repair defective syndromes." Experimental Dermatology 16:532–544. PubMed ID: 17518994

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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