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GeneSeq: Cardio - Familial Aortopathy Panel
Clinical Genetic Test
Help
offered by
Integrated Genetics Westborough
GTR Test Accession: Help GTR000604230.2
INHERITED DISEASEDYSMORPHOLOGYCONNECTIVE TISSUE ... View more
Last updated in GTR: 2023-09-24
View version history
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (13): Help
Loeys-Dietz syndrome; Adams-Oliver syndrome; Arterial tortuosity syndrome; ...
Genes (28): Help
ACTA2 (10q23.31), BGN (Xq28), CBS (21q22.3), COL3A1 (2q32.2), COL5A1 (9q34.3), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Integrated Genetics Westborough
View lab's website
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:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 13
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 28
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions and deletions. MED12 c.3020A>G (p.Asn1007Ser) variant only TGFBR1 excludes exon 1
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity at 30X coverage is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >96% for insertions/deletions between six and forty-five base pairs.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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