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Hereditary Haemorrhagic Telangiectasia Panel
Clinical Genetic Test
Help
offered by
Health in Code
GTR Test Accession: Help GTR000521464.2
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2015-03-31
View version history
Last annual review date for the lab: 2015-03-06 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Telangiectasia, hereditary hemorrhagic, type 1
Genes (6): Help
ACVRL1 (12q13.13), BMPR2 (2q33.1-33.2), ENG (9q34.11), GDF2 (10q11.22), SMAD1 (4q31.21), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Clinical features consistent with Pulmonary Hypertension
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Health in Code
View lab's website
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Genetic counseling
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Qiagen QIAcube
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive; Prognostic; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Clinical features consistent with Pulmonary Hypertension
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We use to inform about any relevant update by e-mail. The update is always included in a new report made for a carrier relative.
Recommended fields not provided:
Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Sanger direct sequencing/ PCR
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test detects > 99% of substitution variants and small insertions and deletions.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
Own clinical database, SIFT, Polyphen-2, PMUT, SSF, HSF, MaxEnt, NNSplice

Laboratory's policy on reporting novel variations Help
We inform about them in our test report
Recommended fields not provided:
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

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