Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (CCDC28B 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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Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (ARL6 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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Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (CCDC28B 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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Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (ARL6 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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Bardet-Biedl syndrome 1, 209900, Autosomal recessive, Digenic recessive, BBS1 (Bardet-Biedl syndrome) (BBS1 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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Bardet-Biedl syndrome 1, 209900, Autosomal recessive, Digenic recessive, BBS1 (Bardet-Biedl syndrome) (BBS1 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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Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc.
United States | 185 | 145 | - D Deletion/duplication analysis
- I Microsatellite instability testing (MSI)
- X Mutation scanning of select exons
- T Targeted variant analysis
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Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 693 | 388 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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MVL Vision Panel Molecular Vision Laboratory
United States | 1358 | 1028 | - 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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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
|
ARL6 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 3 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CCDC28B - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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BBS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 1 | 1 | - D Deletion/duplication analysis
- 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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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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CentoVision Panel Centogene AG - the Rare Disease Company
Germany | 417 | 413 | - 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
|
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company
Germany | 247 | 262 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company
Germany | 451 | 452 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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