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Ataxia-Telangiectasia-Like Disorder via the MRE11/MRE11A 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
4833 MRE11 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4833MRE1181479 81479,81479 $990 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.

Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).

Click here for costs to reflex to whole PGxome.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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


Genetic Counselors


  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

Ataxia-telangiectasia-like disorder (ATLD) is similar to the disease ataxia-telangiectasia (A-T) in that patients show progressive cerebellar ataxia; however, they do not show telangiectasias and show normal immunoglobulin levels, later-onset disease and a milder clinical course compared to A-T. At the cellular level, there is chromosomal instability, increased sensitivity to ionizing radiation, defective induction of stress-activated signal transduction pathways, and radioresistant DNA synthesis (Taylor et al. DNA Repair 3(8-9):1219-25, 2004).


Ataxia-telangiectasia-like disorder (ATLD) is caused by variants in the MRE11/MRE11A gene, which is involved in homologous recombination, telomere length maintenance, cell cycle checkpoint control, and DNA double-strand break repair (Taylor et al. DNA Repair 3(8-9):1219-25, 2004). The MRE11A protein forms a complex with the RAD50 and NBS1 proteins to form the MRN complex, which is required for proper DNA repair. The protein ATM when mutated is responsible for ataxia-telangiectasia, which acts upstream of the MRN complex and is responsible for MRN activation through phosphorylation. The MRN complex also has a role in ATM recruitment to DNA damage foci (Wu et al. Mol Cell. 2012 May 11;46(3):351-61, 2012) and has been shown to be associated with mismatch repair proteins (Wu et al. Mol Cancer Res 9(11):1443-8, 2011). ATLD has an autosomal recessive mode of inheritance and variants reported to date include missense, splicing, and a small deletion (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Analytical sensitivity should be high, because the variants reported are readily detectable by gene sequencing. Clinical sensitivity is unknown at this time since ATLD is a rare disease and relatively few patients have been reported.

Testing Strategy

This test provides full coverage of all coding exons of the MRE11 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-like disorder or as a differential for ataxia-telangiectasia. Individuals with a family history of ATLD and who want to know their carrier status of MRE11 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MRE11. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.


Official Gene Symbol OMIM ID
MRE11 600814
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Ataxia-Telangiectasia-Like Disorder AR 604391

Related Tests

Chromosomal Instability Syndromes Panel
Hyper IgM Syndrome Panel


  • Taylor AMR, Groom A, Byrd PJ. 2004. Ataxia-telangiectasia-like disorder (ATLD)—its clinical presentation and molecular basis. DNA Repair 3: 1219–1225. PubMed ID: 15279810
  • Taylor et al. (2004). "Ataxia-telangiectasia-like disorder (ATLD)—its clinical presentation and molecular basis." DNA Repair  3(8-9):1219-25.
  • Wu et al. (2012). "Skp2 E3 ligase integrates ATM activation and homologous recombination repair by ubiquitinating NBS1." Mol Cell 46(3):351-61. PubMed ID: 22464731
  • Wu et al. (2011). "Causal link between microsatellite instability and hMRE11 dysfunction in human cancers." Mol Cancer Res 9(11):1443-8. PubMed ID: 21849470


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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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