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TTN panel
Clinical Genetic Test
Help
offered by
Molecular Cardiology Laboratories
GTR Test Accession: Help GTR000591294.2
CARDIOVASCULARMUSCULOSKELETAL
Last updated in GTR: 2021-08-03
View version history
Last annual review date for the lab: 2024-08-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Predictive; Risk Assessment
Conditions (1): Help
Primary dilated cardiomyopathy
Genes (1): Help
TTN (2q31.2)
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with diagnosis of Cardiomyopathy with negative standard NGS CM …
Clinical validity: Help
Not provided
Clinical utility: Help
Guidance for management
Ordering Information
Offered by: Help
Molecular Cardiology Laboratories
View lab's website
Test short name: Help
TTN
Specimen Source: Help
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • White blood cell prep
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Out-of-State Patients
Test Order Code: Help
TTN cardiomyopathy test
Lab contact: Help
Patrick Gambelli, PhD, Informatics staff
patrick.gambelli@icsmaugeri.it
+39 0382 592057
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Tests can be referred to the lab either directly by patient/family or by referring physician. The first step will be to contact the Genetic counselor or the medical director of the lab to have detailed instruction that vary upon the specific test that is requested.
Since the Lab work …
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Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Genetic counseling
Result interpretation
Informed consent required: Help
Yes
Test strategy: Help
NGS targeted panel This test is usually performed if standard DCM panel is negative for causative mutations
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Thermofisher Ion Torrent
Clinical Information
Test purpose: Help
Diagnosis; Predictive; Risk Assessment
Clinical utility: Help
Guidance for management
View citations (1)
  • Peña-Peña ML, Ochoa JP, Barriales-Villa R, Cicerchia M, Palomino-Doza J, Salazar-Mendiguchía J, Lamounier A, Trujillo JP, Garcia-Giustiniani D, Fernandez X, Ortiz-Genga M, Monserrat L, Crespo-Leiro MG. Prognostic implications of pathogenic truncating variants in the TTN gene. Int J Cardiol. 2020;316:180-183. doi:10.1016/j.ijcard.2020.04.086. Epub 2020 May 01. PMID: 32371228.

Target population: Help
Patients with diagnosis of Cardiomyopathy with negative standard NGS CM panel
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We check variations against GnomAd, ESV database and our internal database (based on the results of >8000 tests). Family screening for genotype-phenotype co-segregation analysis is the second step. If required we also run a panel of race-matched controls. In specific case we perform in vitro expression of mutants with functional … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Referring physicians are encouraged to keep a long term contact with the lab. Patients directly followed up at our Clinics are promptly contacted
Research:
Is research allowed on the sample after clinical testing is complete? Help
Anonymized Data are used for epidemiological registries and for genotype-phenotype correlation. The test informed consent gives the possibility to opt in or out for the research registry
Recommended fields not provided:
Clinical validity, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Standard Factory provided. Probe set internally designed
Test Confirmation: Help
Sanger sequencing on all coding variants
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy for variant detection > 98%
Assay limitations: Help
A positive test confirm DCM diagnosis. Negative test cannot exclude it
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen, PaPi

Laboratory's policy on reporting novel variations Help
Variants are reported following the ACMG guidelines
Recommended fields not provided:
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: Help
Category: Not Applicable
Additional Information
Reviews:
Clinical resources:
Molecular resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.