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
|
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 | 165 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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 Neurodevelopmental Disorders Panel Invitae
United States | 404 | 241 | - D Deletion/duplication analysis
|
Invitae Overgrowth Syndromes Panel Invitae
United States | 96 | 53 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae
United States | 638 | 419 | - D Deletion/duplication analysis
|
Invitae Brain Malformations Panel Invitae
United States | 247 | 161 | - D Deletion/duplication analysis
|
Hydrocephalus Panel PreventionGenetics
United States | 40 | 37 | - 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
|
