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Exon Carrier Test Trio
Clinical Genetic Test
Help
offered by
Avero Diagnostics
GTR Test Accession: Help GTR000592290.1
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Registered in GTR: 2020-12-16
View version history
Last annual review date for the lab: 2021-10-29 Past due LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (4): Help
Cystic fibrosis; Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome more...
Genes (3): Help
CFTR (7q31.2); FMR1 (Xq27.3); SMN1 (5q13.2)
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: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
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)
Sequence analysis of the entire coding region
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
Interpretation performed at an outside lab
Report generated both in-house and at an outside lab
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab

Test performance comments
Final report generation done at Avero Diagnostics. Specimen preparation, wet lab work, and interpretation are performed at Baylor Miraca Genetics Laboratories DBA Baylor Genetics, 2450 Holcombe Blvd. Houston, TX 77021-2024
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

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.