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Marfan Syndrome, Type 2 - TGFBR1 Gene
Clinical Genetic Test
Help
offered by
Center for Genetics at Saint Francis
View lab's test page
LinkOut
GTR Test Accession: Help GTR000502932.4
CAP
INHERITED DISEASECONNECTIVE TISSUESYNDROMIC DISEASE ... View more
Last updated in GTR: 2018-09-24
View version history
Last annual review date for the lab: 2021-10-14 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Conditions (5): Help
Loeys-Dietz syndrome 1; MASS syndrome; Marfan syndrome; ...
Genes (1): Help
TGFBR1 (9q22.33)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals exhibiting symptoms consistent with Marfan syndrome, Marfan-like symptoms, TAAD, …
Clinical validity: Help
10 -15% of individuals with a clinical diagnosis of Marfan …
Clinical utility: Help
Establish or confirm diagnosis; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Test short name: Help
TGFBR1
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Administrator
lhwhetsell@saintfrancis.com
918-502-1730
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
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 5
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 3130 Capillary Sequencing System
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Clinical validity: Help
10 -15% of individuals with a clinical diagnosis of Marfan Syndrome will have a mutation in the coding regions of TGFBR1.
View citations (1)
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Target population: Help
Individuals exhibiting symptoms consistent with Marfan syndrome, Marfan-like symptoms, TAAD, autosomal dominant aortic aneurysm syndrome or skeletal features of increased height, disproportionately long limbs, chest deformity, joint laxity, scoliosis and a narrow, highly arched palate with crowding of the teeth. Ocular features include myopia and ectopia lentis. 10 -15% of … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
HGMD, Disease specific databases and an Internal Variant Database are used for variant interpretation. An assessment is also made with a splice site predictor program. Once established as a VUS, Polyphen and SIFT analyses are performed to help provide an interpretation.

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. Ordering physician or genetic counselor contacted and a revised report issued
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
View citations (1)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
CAP Survey MGL3 for Sequencing Platform

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
Polyphen and SIFT

Laboratory's policy on reporting novel variations Help
Routine report
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
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.