Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800, Autosomal dominant; CCF (Familial clubfoot with or without associated lower limb anomalies) (PITX1 gene) (Sequence Analysis-All Coding Exons) (Postnata Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800, Autosomal dominant; CCF (Familial clubfoot with or without associated lower limb anomalies) (PITX1 gene) (Sequence Analysis-All Coding Exons) (Prenatal Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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CentoNeuro Panel Centogene AG - the Rare Disease Company
Germany | 1886 | 1858 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Intellectual Disability Panel Centogene AG - the Rare Disease Company
Germany | 777 | 770 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 356 | 177 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences
United States | 320 | 231 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Polydactyly Panel PreventionGenetics, part of Exact Sciences
United States | 231 | 139 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (sequence analysis of PITX1 gene) CGC Genetics Unilabs
Portugal | 1 | 1 | - C Sequence analysis of the entire coding region
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Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada | 1 | 1 | - C Sequence analysis of the entire coding region
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Arthrogryposis Panel GeneDx
United States | 156 | 91 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Spinal Muscular Atrophy NGS Panel Fulgent Genetics
United States | 93 | 29 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Liebenberg Syndrome (PITX1 Single Gene Test) Fulgent Genetics
United States | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics
United States | 182 | 76 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Early-Onset Ataxia NGS Panel Fulgent Genetics
United States | 505 | 132 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Cleft Palate/Lip NGS Panel Fulgent Genetics
United States | 127 | 23 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Congenital Myopathy NGS Panel Fulgent Genetics
United States | 186 | 61 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics
United States | 1048 | 472 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Neuronal Migration Disorders NGS Panel Fulgent Genetics
United States | 392 | 83 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Arthrogryposis NGS Panel Fulgent Genetics
United States | 175 | 60 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Adams-Oliver Syndrome NGS Panel Fulgent Genetics
United States | 55 | 6 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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