Core Carrier Test
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000592286.1
CAP
INHERITED DISEASEHEMATOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2020-12-15
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 (7): Help
CFTR (7q31.2), FMR1 (Xq27.3), HBA1 (16p13.3), HBA2 (16p13.3), HBB (11p15.4), ...
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: 6
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
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:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our analytic validation study has 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

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.