Invitae Fragile X - Related Disorders, Diagnostic
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000597473.1
Last updated in GTR: 2022-05-13
Last annual review date for the lab: 2023-10-10 LinkOut
At a Glance
Diagnosis; Monitoring; Screening
Developmental delay; Autism spectrum disorder; Dysmorphic features; ...
Genes (1): Help
FMR1 (Xq27.3)
Molecular Genetics - Targeted variant analysis: PCR
The Invitae Fragile X – Related Disorders, Diagnostic Test analyzes …
Not provided
Not provided
Ordering Information
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
How to Order: Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Screening
Target population: Help
The Invitae Fragile X – Related Disorders, Diagnostic Test analyzes CGG trinucleotide repeat expansions in the 5′ untranslated region (UTR) of the FMR1 gene. FMR1 is associated with a spectrum of conditions including fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). FXS, … View more
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations: Help
This test employs polymerase chain reaction (PCR) and capillary electrophoresis to determine the number of cytosine-guanine-guanine (CGG) triplet repeats in the 5’ untranslated region (5’ UTR) of the fragile X mental retardation-1 (FMR1) gene from genomic DNA isolated from peripheral whole blood or buccal swab specimens. This assay is designed … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number: 8884
Status: Approved
Additional Information

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