GDF5 Gene Brachydactyly type A1C NGS Genetic DNA Test DNA Labs India
India | 1 | 1 | - S Mutation scanning of the entire coding region
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CentoScreen Centogene AG - the Rare Disease Company
Germany | 316 | 314 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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GDF5 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 8 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CentoNephro Panel Centogene AG - the Rare Disease Company
Germany | 498 | 498 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CentoNephro Plus Panel Centogene AG - the Rare Disease Company
Germany | 499 | 499 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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CentoDysmorph Panel Centogene AG - the Rare Disease Company
Germany | 740 | 728 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 624 | 349 | - D Deletion/duplication 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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Brachydactyly, type A2, 112600, Autosomal dominant (Brachydactyly type A2) (GDF5 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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Brachydactyly, type C, 113100, Autosomal dominant; BDC (Brachydactyly type C) (GDF5 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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Brachydactyly, type A1, C, 615072, Autosomal recessive, Autosomal dominant; BDA1C (Brachydactyly type A1) (GDF5 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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Chondrodysplasia, Grebe type, 200700, Autosomal recessive (Acromesomelic dysplasia, Grebe type) (GDF5 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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Chondrodysplasia, Grebe type, 200700, Autosomal recessive (Acromesomelic dysplasia, Grebe type) (GDF5 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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Multiple synostoses syndrome 2, 610017, Autosomal dominant; SYNS2 (Multiple synostoses syndrome) (GDF5 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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Symphalangism, proximal, 1B, 615298; SYM1B (Proximal symphalangism) (GDF5 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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Osteoarthritis-5, 612400 (Fibular aplasia-complex brachydactyly syndrome) (GDF5 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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Du Pan syndrome, 228900, Autosomal recessive (Fibular aplasia-complex brachydactyly syndrome) (GDF5 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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Du Pan syndrome, 228900, Autosomal recessive (Fibular aplasia-complex brachydactyly syndrome) (GDF5 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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