Fragile X Tremor-Ataxia Syndrome - Clinical Genetic Test - GTR

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Fragile X Tremor-Ataxia Syndrome

Clinical Genetic Test

offered by

Genetics Laboratory

GTR Test Accession: GTR000500315.3

CAP

INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more

Last updated in GTR: 2016-03-07

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

At a Glance

Test purpose:

Diagnosis; Screening

Conditions (1):

Fragile X-associated tremor/ataxia 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 the diagnosis of Fragile X Tremor-Ataxia Syndrome …

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:

FXTAS

Specimen Source:

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. 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

Methylation analysis

Trinucleotide repeat by PCR or Southern Blot

Targeted variant analysis

Trinucleotide repeat by PCR or Southern Blot

* Instrument: Not provided

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 the diagnosis of Fragile X Tremor-Ataxia Syndrome in patients with neurodegenerative disorders, mild cognitive and/or behavioral deficits and/or premature ovarian failure.

View citations (1)

Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004;74(5):805-16. doi:10.1086/386296. Epub 2004 Mar 29. PMID: 15052536.

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 Confirmation:

Positive results are confirmed by comparison to known positive controls

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

This test confirms or rules out the diagnosis of Fragile X Tremor-Ataxia syndrome in a clinically symptomatic male or female with greater than 99% accuracy.

View citations (1)

European Journal of Human Genetics (2011) 19

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.