Exon Carrier Test Trio
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000592290.1
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2020-12-16
Last annual review date for the lab: 2021-10-29 Past due LinkOut
At a Glance
Screening
Cystic fibrosis; Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; ...
Genes (3): Help
CFTR (7q31.2), FMR1 (Xq27.3), SMN1 (5q13.2)
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
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:
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:
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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