Invitae Expanded Renal Disease Panel Invitae
United States | 693 | 388 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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
|
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
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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
|
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
|
CentoCardio Panel Centogene AG - the Rare Disease Company
Germany | 289 | 275 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoDysmorph Panel Centogene AG - the Rare Disease Company
Germany | 740 | 728 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoHear Panel Centogene AG - the Rare Disease Company
Germany | 203 | 194 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
|
VACTERL Association and Related Disorders Panel PreventionGenetics
United States | 123 | 84 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Invitae Limb and Digital Malformations Panel Invitae
United States | 356 | 177 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Polydactyly and Syndactyly Panel PreventionGenetics
United States | 320 | 231 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Polydactyly Panel PreventionGenetics
United States | 231 | 139 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Townes-Brocks syndrome, 107480, Autosomal dominant; TBS (Townes-Brocks syndrome) (SALL1 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
|
Townes-Brocks branchiootorenal-like syndrome, 107480, Autosomal dominant (Townes-Brocks syndrome) (SALL1 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
|
Townes-Brocks syndrome, 107480, Autosomal dominant; TBS (Townes-Brocks syndrome) (SALL1 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
|
Townes-Brocks branchiootorenal-like syndrome, 107480, Autosomal dominant (Townes-Brocks syndrome) (SALL1 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
|
Syndactyly Panel PreventionGenetics
United States | 220 | 128 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States | 527 | 338 | - C Sequence analysis of the entire coding region
|
