Blepharophimosis ptosis epicanthus inversus syndrome (BPES) type I and II … see more Blepharophimosis ptosis epicanthus inversus syndrome (BPES) type I and II (FOXL2 gene)  see less
GTR Test Accession: Help GTR000591322.1
INHERITED DISEASEOPHTHALMOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2020-08-10
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Genes (1): Help
FOXL2 (3q22.3)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Not provided
The intragenic variants are distributed along the total coding region …
Guidance for management
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
BPES
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2606
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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: 1
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 *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
The intragenic variants are distributed along the total coding region of FOXL2 gene (single exon gene). Intragenic variants are detected in 70% of BPES cases.
View citations (1)
  • [Primary nodular lymphosarcoma of the breast]. Nikonov AA, et al. Arkh Patol. 1991;53(4):56-8. PMID: 1872693.
Clinical utility: Help
Guidance for management
View citations (1)
  • [Primary nodular lymphosarcoma of the breast]. Nikonov AA, et al. Arkh Patol. 1991;53(4):56-8. PMID: 1872693.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For validation, samples corresponding to a control (without BPES phenotype) and two patients were used (with BPES phenotype), of which one presented the heterozygous variant c.855_871dup, while the other presented an identical sequence to the reference. Sanger sequencing analysis approaches an analytical sensitivity of almost 100%.
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

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