Fragile X Syndrome - Clinical Genetic Test - GTR

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Fragile X Syndrome

Clinical Genetic Test

offered by

Genetics Laboratory

GTR Test Accession: GTR000500314.4

CAP

INHERITED DISEASESYNDROMIC DISEASE

Last updated in GTR: 2023-02-08

Last annual review date for the lab: 2023-02-08 Past due

At a Glance

Test purpose:

Diagnosis; Screening

Conditions (1):

Fragile X syndrome

Genes (1):

FMR1 (Xq27.3)

Methods (3):

Molecular Genetics - Methylation analysis: Methylation-specific PCR; Trinucleotide repeat by PCR or Southern Blot; ...

Target population:

This test confirms a diagnosis of Fragile X in patients …

Clinical validity:

Clinical specificity and sensitivity are approximately 99%-100% for full mutations …

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Genetics Laboratory
View lab's website

Test short name:

FMR1

Specimen Source:

Fetal blood
Isolated DNA
Peripheral (whole) blood

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician
Nurse Practitioner
Physician Assistant

CPT codes:

81244

**AMA CPT codes notice

Contact Policy:

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

How to Order:

Samples should be submitted with the appropriate requisition form (DNA test request form). Samples are received Monday through Saturday. For DNA testing blood should be collected in EDTA or ACD tubes.

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Prenatal tesing
FISH Analysis
Drug Metabolism testing
Cytogenetics Analysis
Maternal Serum Screening
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Decline to answer

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test Order Code, Lab contact for this test, Test strategy

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

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

Methodology

Total methods: 3

Method Category

Test method

Instrument

Methylation analysis

Methylation-specific PCR

BioRad CFX96

Methylation analysis

Trinucleotide repeat by PCR or Southern Blot

SeqStudio Genetic Analyzer (Thermofisher Scientific)

Targeted variant analysis

Trinucleotide repeat by PCR or Southern Blot

Clinical Information

Test purpose:

Diagnosis; Screening

Clinical validity:

Clinical specificity and sensitivity are approximately 99%-100% for full mutations and permutations.

View citations (1)

Eur J Hum Genet. 2011;19

Clinical utility:

Establish or confirm diagnosis

View citations (1)

Eur J Hum Genet. 2011;19

Target population:

This test confirms a diagnosis of Fragile X in patients with mental retardation, minor facial anomalies, seizures, and behavioral problems including autistic tendencies, and especially in males with a positive family history of mental retardation. Screening is available since physical signs are subtle, and are difficult to recognize in affected … View more

Recommended fields not provided:

What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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

Test Procedure:

Positive results are confirmed by comparison to known positive controls

Test Confirmation:

Positive results are confirmed by comparison to known positive controls

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

The analytical sensitivity for detection of full mutations associated with fragile X syndrome was 99% in males and 96% in females. The analytical sensitivity for detection of premutations was 98%, and the analytical specificity of testing was 99.9%. Data collected from CAP proficiency testing from 2001 to 2009.

View citations (1)

Weck KE, Zehnbauer B, Datto M, Schrijver I, . Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009). Genet Med. 2012;14(3):306-12. doi:10.1038/gim.2011.11. Epub 2012 Jan 05. PMID: 22241100.

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Recommended fields not provided:

Assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View FMR1 variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Practice guidelines:

Consumer resources:

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.