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Clinical Genetic Test
Help
offered by
Avero Diagnostics
GTR Test Accession: Help GTR000592287.1
CAP
INHERITED DISEASEMETABOLIC DISEASEOPHTHALMOLOGY ... View more
Last updated in GTR: 2020-12-15
View version history
Last annual review date for the lab: 2021-10-29 Past due LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (14): Help
PMM2-congenital disorder of glycosylation; Cystic fibrosis; Fragile X syndrome; ...
Genes (15): Help
ACADM (1p31.1), CFTR (7q31.2), DHCR7 (11q13.4), FMR1 (Xq27.3), G6PC1 (17q21.31), ...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: 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
Avero Diagnostics
View lab's website
Informed consent required: Help
Based on applicable state law
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: 14
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 15
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
Our validation study demonstrated > 99% sensitivity and specificity for tested mutations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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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