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Timothy syndrome
Clinical Genetic Test
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offered by
Molecular Cardiology Laboratories
View lab's test page
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GTR Test Accession: Help GTR000593441.2
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2023-08-09
View version history
Last annual review date for the lab: 2023-08-09 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Timothy syndrome
Genes (1): Help
CACNA1C (12p13.33)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Patients with established clinical diagnosis of long QT syndrome
Clinical validity: Help
Not provided
Clinical utility: Help
Guidance for management
Ordering Information
Offered by: Help
Molecular Cardiology Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Saliva
  • Skin
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Out-of-State Patients
Test Order Code: Help
Timothy syndrome test
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
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy
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
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Guidance for management
View citations (2)
  • Napolitano C, Timothy KW, Bloise R, Priori SG. -Related Disorders. 2006 Feb 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301577.
  • https://www.ncbi.nlm.nih.gov/books/NBK1403

Target population: Help
Patients with established clinical diagnosis of long QT syndrome
View citations (1)
  • Napolitano C, Timothy KW, Bloise R, Priori SG. -Related Disorders. 2006 Feb 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301577.
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. The lab is available for family screening

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
Data can be used for clinical research and genotype phenotype correlation upon specific informed consent
Recommended fields not provided:
Clinical validity, Sample negative report, Sample positive report
Technical Information
Test Platform:
Ion Torrent
Test Confirmation: Help
The lab requires confirmation on at least two (possibly three) independent samples
Test Comments: Help
When the clinnical diagnosis is established genotyping rate is close to 100%
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
When the clinical diagnosis is established genotyping rate is close to 100%
Analytical Validity: Help
sensitivity is >98%
View citations (2)
  • Napolitano C, Timothy KW, Bloise R, Priori SG. -Related Disorders. 2006 Feb 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301577.
  • https://www.ncbi.nlm.nih.gov/books/NBK1403
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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:
Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.