Invitae Stickler Syndrome Panel
GTR Test Accession: Help GTR000592464.1
NYS CLEP
INHERITED DISEASEMUSCULOSKELETALDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-03-09
Last annual review date for the lab: 2023-10-10 Past due LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Therapeutic management
Otospondylomegaepiphyseal dysplasia, autosomal dominant; Achondrogenesis type II; Autosomal dominant nonsyndromic hearing loss 13 more...
Genes (9): Help
COL11A1 (1p21.1); COL11A2 (6p21.32); COL2A1 (12q13.11); COL9A1 (6q13); COL9A2 (1p34.2) more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Genetic testing for genes associated with Stickler syndrome is generally …
Not provided
Not provided
Ordering Information
Offered by: Help
Labcorp Genetics (formerly Invitae)
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
55013
How to Order: Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 32
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 9
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Therapeutic management
Target population: Help
Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more

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.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations: Help
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 8884
Status: Approved
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.