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Results: 1 to 20 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) type I and II (FOXL2 gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • E Sequence analysis of select exons

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

FOXL2 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
21
  • C Sequence analysis of the entire coding region

Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100, Autosomal dominant; BPES (Blepharophimosis-epicanthus inversus-ptosis syndrome) (FOXL2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100, Autosomal dominant; BPES (Blepharophimosis-epicanthus inversus-ptosis syndrome) (FOXL2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100, Autosomal dominant; BPES (Blepharophimosis-epicanthus inversus-ptosis syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100, Autosomal dominant; BPES (Blepharophimosis-epicanthus inversus-ptosis syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) Panel

PreventionGenetics, Part of Exact Sciences
United States
149158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
128139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
96105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene

PreventionGenetics, Part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 39

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.