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Carrier Screening - Fragile X Syndrome (FMR1)
Clinical Genetic Test
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offered by
Genesys Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000607968.1
CAP
INHERITED DISEASESYNDROMIC DISEASEENDOCRINOLOGY ... View more
Registered in GTR: 2023-08-15
View version history
Last annual review date for the lab: 2024-07-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (3): Help
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1
Genes (1): Help
FMR1 (Xq27.3)
Methods (1): Help
Molecular Genetics - Microsatellite instability testing (MSI): Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Male patients with intellectual disabilities or symptoms of FXTAS, female …
Clinical validity: Help
Not provided
Clinical utility: Help
Reproductive decision-making
Ordering Information
Offered by: Help
Genesys Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Nurse Practitioner
Test Order Code: Help
CSFXS
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 3
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 *
Microsatellite instability testing (MSI)
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Reproductive decision-making
View citations (1)
  • Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, . Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793-1806. doi:10.1038/s41436-021-01203-z. Epub 2021 Jul 20. PMID: 34285390.

Target population: Help
Male patients with intellectual disabilities or symptoms of FXTAS, female patients with symptoms of FXPOI. Patients of any gender that have a known family history of FXS, family history of intellectual disability of unknown cause, or are considering reproduction (carrier screening).
View citations (1)
  • Hiratsuka M, Zhou Y, Lauschke VM. Editorial: Population Pharmacogenomics (PGx): From Variant Identification to Clinical Implementation. Front Genet. 2021;12:736626. doi:10.3389/fgene.2021.736626. Epub 2021 Aug 05. PMID: 34422026.
Recommended fields not provided:
Clinical validity, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The GDI FMR1 Fragment Analysis Assay uses a dual PCR system using full length PCR amplification and triplet repeat primed PCR amplification to detect the number of CGG repeats in the FMR1 gene. The assay was validated by Genesys Diagnostics with a sensitiity and speciicity of 100% and 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information (legacy) Help
CAP/ACMG Molecular Genetics Series; Fragile X (FMR1 gene); MGL1
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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