Andersen Syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000593442.2
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2023-08-09
Last annual review date for the lab: 2023-08-09 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Andersen Tawil syndrome
Genes (1): Help
KCNJ2 (17q24.3)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Patients with a clinical diagnosis of Andresen-Tawil syndrome
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Cardiology Laboratories
View lab's website
Specimen Source: Help
  • Buffy coat
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Saliva
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Out-of-State Patients
Test Order Code: Help
Andersen Tawil 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 …
View more
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
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
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; Therapeutic management
Target population: Help
Patients with a clinical diagnosis of Andresen-Tawil syndrome
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 encourages the screening of family members for co-segregation analysis that may improve substantially the data interpretation

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
Recommended fields not provided:
Technical Information
Test Confirmation: Help
The lab requires confirmation on at least two independent samples (possibily three)
Availability: Help
Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
>98% sensitivity
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:
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.