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SHOC2 Sequence Analysis (Familial Mutation/Variant Analysis)
Clinical Genetic Test
Help
offered by
Baylor Genetics
GTR Test Accession: Help GTR000512139.2
INHERITED DISEASECARDIOVASCULARCONNECTIVE TISSUE ... View more
Last updated in GTR: 2019-07-01
View version history
Last annual review date for the lab: 2023-07-21 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Noonan syndrome-like disorder with loose anagen hair
Genes (1): Help
SHOC2 (10q25.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
General population with clinical diagnosis of disease
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Baylor Genetics
View lab's website
Test Order Code: Help
6901
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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 *
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
General population with clinical diagnosis of disease
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity >99%. Analytical Specificity >99% Precision >99%
View citations (4)
  • Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. , et al. Br J Cancer. 2000;83(10):1301-8. doi:10.1054/bjoc.2000.1407. PMID: 11044354.
  • Petrucelli N, Daly MB, Pal T. and . 1998 Sep 04 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301425.
  • Analytical validity of LDT is determined during validation of test following CLIA and CAP recommendations.
  • https://www.ncbi.nlm.nih.gov/books/NBK1247
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, 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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