Invitae Fragile X - Related Disorders, Diagnostic - Clinical Genetic Test - GTR

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Invitae Fragile X - Related Disorders, Diagnostic

Clinical Genetic Test

offered by

Labcorp Genetics (formerly Invitae)

View lab's test page

GTR Test Accession: GTR000597473.1

NYS CLEP

NERVOUS SYSTEMPSYCHIATRIC

Registered in GTR: 2022-05-13

Last annual review date for the lab: 2023-10-10 Past due

At a Glance

Test purpose:

Diagnosis; Monitoring; Screening

Conditions (5):

Developmental delay; Autism spectrum disorder; Dysmorphic features more...

Genes (1):

FMR1 (Xq27.3)

Methods (1):

Molecular Genetics - Targeted variant analysis: PCR

Target population:

The Invitae Fragile X – Related Disorders, Diagnostic Test analyzes …

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Labcorp Genetics (formerly Invitae)
View lab's website
View lab's test page

Specimen Source:

Buccal swab
Peripheral (whole) blood
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician
Nurse Practitioner
Physician Assistant
Registered Nurse

Test Order Code:

81330

How to Order:

Tests can be ordered online or by submitting a paper requisition form.
Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Based on applicable state law

Pre-test genetic counseling required:

Post-test genetic counseling required:

Recommended fields not provided:

Lab contact for this test, Contact policy, Test strategy

Conditions

Total conditions: 5

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Targeted variant analysis

PCR

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Monitoring; Screening

Target population:

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, … 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, the most common cause of inherited learning disability, occurs in individuals with FMR1 full mutations (>200 CGG repeats). FMR1 premutations (55-200 CGG repeats) are associated with an increased risk of developing FXTAS or FXPOI. Test results are intended to aid the diagnostic work-up of individuals with a suspected diagnosis of an FMR1-related disorder by their healthcare provider(s). A positive result (full mutation or premutation) may be used as an aid in the diagnosis of the aforementioned disorders, in addition to other relevant clinical and pathologic findings. However, a positive result, in and of itself, is not diagnostic of any disease process. A negative result (no full mutation or premutation detected), while supportive of the absence of FMR1-related diagnoses, does not preclude such diagnoses, as there are other genetic mechanisms of disease (e.g. single nucleotide variants across the FMR1 coding region) not detected by this test. 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 to detect FMR1 5’ UTR CGG triplet repeat allele sizes only. This test is not intended to detect FMR1 methylation, which is a potential functional consequence of CGG triplet repeat expansion, or adenine-guanine-guanine (AGG) interrupting sequences within the CGG triplet repeat region, which may inform the probability of passing on a full mutation to offspring of premutation allele carriers. This assay is not intended to detect mosaicism of CGG triplet repeat alleles or diagnose sex chromosome aneuploidy, although evidence of such incidental findings may be present in the analysis and reported. This assay is not designed to detect other FMR1 genetic variants, such as single nucleotide variants in coding regions, small intragenic insertions, deletions, or duplications, larger copy number variants, genomic rearrangements, other noncoding variants, or any other as yet undetermined variants that are only rarely implicated in FMR1-related disorder cases not due to CGG triplet repeat expansion (less than 1% of cases). A negative test result also does not exclude other hereditary disorders not involving FMR1, or any other acquired disorders that may result in signs and symptoms similar to those of FMR1-related disorders. View more

Variant Interpretation:

Are family members with defined clinical status recruited to assess significance of VUS without charge?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
Not provided.

Recommended fields not provided:

Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, 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:

Tests performed
Entire test performed in-house

Analytical Validity:

Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.

Assay limitations:

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?
No

Recommended fields not provided:

Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Not provided

NYS CLEP Approval:

Number: 8884
Status: Approved

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

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.