GTR Test Accession:
Help
GTR000597556.1
NYS CLEP
Last updated in GTR: 2022-07-15
View version history
GTR000597556.1, last updated: 2022-07-15
Last annual review date for the lab: 2023-10-10
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Monitoring;
Recurrence; ...
Conditions (95):
Help
Palmoplantar keratoderma, punctate type 1A;
Acroerythrokeratoderma;
Amelogenesis imperfecta type 1A
more...
Genes (45):
Help
Methods (1):
Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel analyzes genes …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Buccal swab
- Isolated DNA
- Skin punch biopsy (fibroblasts)
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Registered Nurse
Test Order Code:
Help
434344
How to Order:
Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
Lab contact for this test,
Contact policy
Conditions
Help
Total conditions: 95
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 45
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Monitoring;
Recurrence;
Risk Assessment
Target population:
Help
The Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel analyzes genes that are associated with epidermolysis bullosa, palmoplantar keratoderma, and related conditions, which are characterized by skin fragility or thickening of the skin on the palms and soles. These genes were selected based on the available evidence to date to provide …
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
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.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
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
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
No
Recommended fields not provided:
Test Confirmation,
Citations to support 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
Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
Help
Number:
8884
Status: Approved
Status: Approved
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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.