ARVD/C9
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000505495.1
INHERITED DISEASECARDIOVASCULARMUSCULOSKELETAL ... View more
Last updated in GTR: 2013-07-19
Last annual review date for the lab: 2023-05-15 Past due LinkOut
At a Glance
Diagnosis; Monitoring; Mutation Confirmation; ...
Arrhythmogenic right ventricular dysplasia 9
Genes (1): Help
PKP2 (12p11.21)
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
John Welsh Cardiovascular Diagnostic Laboratory
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Cell culture
  • Cell-free DNA
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Plasma
  • Saliva
  • Serum
  • Sputum
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Contact Policy: Help
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: Help
submit requissition form/contact director by phone or email
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Mutation Confirmation; Pre-implantation genetic diagnosis; Pre-symptomatic; Screening
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% OF DETECTION OF PKP2 CODING EXONS
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.