Invitae Limb and Digital Malformations Panel Invitae
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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Hypoplastic or aplastic tibia with polydactyly, 188740, Autosomal dominant (Absent tibia-polydactyly syndrome) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Hypoplastic or aplastic tibia with polydactyly, 188740, Autosomal dominant (Absent tibia-polydactyly syndrome) (LMBR1 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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Laurin-Sandrow syndrome, 135750, Autosomal dominant; LSS (Laurin-Sandrow syndrome) (LMBR1 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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Laurin-Sandrow syndrome, 135750, Autosomal dominant; LSS (Laurin-Sandrow syndrome) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Polydactyly, preaxial type II, 174500, Autosomal dominant; PPD2 (Triphalangeal thumb-polysyndactyly syndrome) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Triphalangeal thumb-polysyndactyly syndrome, 174500, Autosomal dominant (Triphalangeal thumb-polysyndactyly syndrome) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Triphalangeal thumb, type I, 174500, Autosomal dominant (Triphalangeal thumb-polysyndactyly syndrome) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP (Absent tibia-polydactyly syndrome) (LMBR1 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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Syndactyly, type IV, 186200, Autosomal dominant; SDTY4 (Syndactyly type 4) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Acheiropody, 200500, Autosomal recessive; ACHP (Acheiropodia) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Acheiropody, 200500, Autosomal recessive; ACHP (Acheiropodia) (LMBR1 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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Syndactyly Panel PreventionGenetics, part of Exact Sciences
United States | 220 | 128 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL
Spain | 3 | 1969 | - S Mutation scanning of the entire coding region
- C Sequence analysis of the entire coding region
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Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences
United States | 103 | 99 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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LMBR1 Institute for Human Genetics University Medical Center Freiburg
Germany | 5 | 1 | - C Sequence analysis of the entire coding region
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Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs
Portugal | 1 | 141 | - C Sequence analysis of the entire coding region
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Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs
Portugal | 1 | 606 | - C Sequence analysis of the entire coding region
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