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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L1CAM - 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
|
Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 | - 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
|
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
|
CentoIEM Panel Centogene AG - the Rare Disease Company Germany | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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
|
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany | 442 | 443 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany | 740 | 728 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Overgrowth Syndromes Panel Invitae United States | 96 | 53 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Hydrocephalus Panel PreventionGenetics, part of Exact Sciences United States | 41 | 38 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Hydrocephalus with Hirschsprung disease, 307000, X-linked recessive (Hydrocephalus with stenosis of the aqueduct of Sylvius) (L1 syndrome) (L1CAM 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
|
Hydrocephalus due to aqueductal stenosis, 307000, X-linked recessive; HSAS (Hydrocephalus with stenosis of the aqueduct of Sylvius) (L1CAM 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
|
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000, X-linked recessive (Hydrocephalus with stenosis of the aqueduct of Sylvius) (L1CAM 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
|
Hydrocephalus due to aqueductal stenosis, 307000, X-linked recessive; HSAS (Hydrocephalus with stenosis of the aqueduct of Sylvius) (L1CAM 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
|
Hydrocephalus with Hirschsprung disease, 307000, X-linked recessive (Hydrocephalus with stenosis of the aqueduct of Sylvius) (L1 syndrome) (L1CAM 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
|
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000, X-linked recessive (Hydrocephalus with stenosis of the aqueduct of Sylvius) (L1CAM 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
|
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 | - C Sequence analysis of the entire coding region
|
Invitae Broad Carrier Screen Invitae United States | 224 | 112 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|