MYH7 Gene Scapuloperoneal myopathy, MYH7 related NGS Genetic DNA Test DNA Labs India
India | 1 | 1 | - S Mutation scanning of the entire coding region
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POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic DNA Test DNA Labs India
India | 1 | 1 | - S Mutation scanning of the entire coding region
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CentoMetabolic MOx Centogene AG - the Rare Disease Company
Germany | 195 | 221 | - A Analyte
- D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Infertility Panel Centogene AG - the Rare Disease Company
Germany | 243 | 238 | - D Deletion/duplication analysis
- E Sequence analysis of select exons
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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POR - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CentoIEM Panel Centogene AG - the Rare Disease Company
Germany | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Congenital Adrenal Hyperplasia (CAH) Panel Centogene AG - the Rare Disease Company
Germany | 12 | 12 | - 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 Invitae
United States | 624 | 349 | - D Deletion/duplication analysis
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Invitae Disorders of Sex Development Panel Invitae
United States | 88 | 53 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Craniosynostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests
United States | 1 | 25 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Craniosynostosis NGS panel HNL Genomics Connective Tissue Gene Tests
United States | 1 | 25 | - C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests
United States | 1 | 25 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Sterol Disorders Panel PreventionGenetics, part of Exact Sciences
United States | 18 | 12 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (POR 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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Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (POR 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
|
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency) (POR 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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