GTR Test Accession:
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GTR000237259.3
CAP
Last updated in GTR: 2020-08-10
View version history
GTR000237259.3, last updated: 2020-08-10
GTR000237259.2, last updated: 2019-08-13
GTR000237259.1, last updated: 2018-08-20
Last annual review date for the lab: 2024-07-22
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (1):
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Charcot-Marie-Tooth disease type 2B1
Genes (1):
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LMNA (1q22)
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
The target population is patients suspected of having a diagnosis …
Clinical validity:
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Dilated cardiomyopathy (DCM) is a severe disease of heart muscle …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
CPT codes:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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All samples should be shipped via overnight delivery at room temperature.
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Confirmation of research findings
Custom Sequence Analysis
Test additional service:
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Custom Prenatal Testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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No
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical validity:
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Dilated cardiomyopathy (DCM) is a severe disease of heart muscle characterized by progressive ventricular dilation and impaired systolic function and is a major cause of congestive heart failure. The prevalence of DCM is estimated at 1 in 2,500 individuals, with inherited forms accounting for 30-50%. Inherited forms of DCM show …
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View citations (1)
- Stabilization of the globular structure of ferricytochrome c by chloride in acidic solvents. Stellwagen E, et al. Biochemistry. 1975;14(23):5135-40. doi:10.1021/bi00694a018. PMID: 1. Taylor MRG, et al. “Natural History of dilated cardiomyopathy due to lamin A/C gene mutations”. (2003) J. Am. College of Cardiology 41:771-780 2. Fatkin et al. “Missense mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease”. (1999) N. Eng. J. Med. 341:1715-1724. 3. Bonne et al. “Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy”. (1999) Nat. Genet. 21:285-288. 4. Muchir et al. “Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)”. (2000) Hum. Mol. Genet. 9:1453-1459. 5. Erickson et al. “Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome”. (2003) Nature 423(6937): 293-298. 6. Novelli G, et al. “Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C”. (2002) Am. J. Hum. Genet. 71:426-431. 7.
Target population:
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The target population is patients suspected of having a diagnosis of Charcot-Marie-Tooth neuropathy type 2.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Research:
Is research allowed on the sample after clinical testing is complete?
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http://dnatesting.uchicago.edu/research-consent-form
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Clinical utility,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Sample negative report,
Sample positive report
Technical Information
Test Comments:
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No deletions or duplications involving LMNA as causative of Charcot-Marie-Tooth Neuropathy Type 2B1 have been reported. (Note: By definition, deletion/duplication analysis identifies rearrangements that are not identifiable by sequence analysis of genomic DNA.)
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100%
Accuracy 100%
Precision 100%
Assay limitations:
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Only the coding and immediate flanking regions of the LMNA gene were analyzed. Changes in the promoter region and other non-coding regions will not be detected by our assay. DNA sequencing detects 99-100% of nucleotide base alterations, small deletions and insertions. Our CNV detection algorithm was developed and its performance …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations
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A custom collection of bioinformatics tools
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations.
A custom collection of bioinformatics tools
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations.
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.