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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 4833 | MRE11 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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.
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).
Genetics
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.
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.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| MRE11 | 600814 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Ataxia-Telangiectasia-Like Disorder | AR | 604391 |
Related Tests
| Name |
|---|
| Chromosomal Instability Syndromes Panel |
| Hyper IgM Syndrome Panel |
Citations
- 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/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.
- 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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ORDER OPTIONS
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