Fragile X Syndrome
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000569530.1
INHERITED DISEASESYNDROMIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2019-11-15
Last annual review date for the lab: 2023-10-13 LinkOut
At a Glance
Diagnosis
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome
Genes (1): Help
FMR1 (Xq27.3)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
CNH Molecular Diagnostics Laboratory
View lab's website
Test Order Code: Help
10220S
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The assay sensitivity and specificity are 100% (95%CI: 69% to 100%) and 92% (95%CI: 73% to 99%), respectively. This assay will identify approximately 98% of affected patients and carriers, excluding patients with other types of mutations in FMR1. This test will NOT detect the sex of the patient and can … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.