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GTR Home > Tests > Fragile X Syndrome, Repeat Number Analysis with Reflex to Methylation Analysis

Fragile X Syndrome, Repeat Number Analysis with Reflex to Methylation Analysis

  • GTR Test IDHelp: GTR000593816.3
  • Last updated: 2022-08-12
  • Test version history

Clinical testHelp for Autism spectrum disorder
Offered by Institute for Genomic Medicine (IGM) Clinical Laboratory

Overview

Test order codeHelp: FRAGX

Test name

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Fragile X Syndrome, Repeat Number Analysis with Reflex to Methylation Analysis (Fragile X)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Pre-symptomatic, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL Help: https://www.nationwidechildrens.org/specialties/laboratory-services

Specimen source

Cord blood
Isolated DNA
Peripheral (whole) blood
Specimen requirements: https://www.nationwidechildrens.org/specialties/laboratory-services

Methodology

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Molecular Genetics
MMethylation analysis
Methylation-specific PCR
TTargeted variant analysis
Tetra-nucleotide repeat by PCR or Southern Blot

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations

Reproductive decision-making

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Clinical validity

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This assay will detect the CGG trinucleotide expansion in >99% of individuals with Fragile X syndrome and other FMR1-related disorders.

Citations

Testing strategy

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PCR analysis will be performed to evaluate the number of CGG repeats. For diagnostic testing, if a premutation (55-200 repeats) or a full mutation (>200 repeats) is detected by PCR, then reflex to methylation analysis will be automatically performed. 000 Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.