MVL Vision Panel Molecular Vision Laboratory
United States | 1358 | 1028 | - 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
|
PRPH2 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 5 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
ROM1 - 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
|
CentoNephro Panel Centogene AG - the Rare Disease Company
Germany | 498 | 498 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoVision Panel Centogene AG - the Rare Disease Company
Germany | 417 | 413 | - 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
|
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
|
CentoDysmorph Panel Centogene AG - the Rare Disease Company
Germany | 740 | 728 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Macular Dystrophy Panel Invitae
United States | 66 | 36 | - D Deletion/duplication analysis
|
Early-Onset High Myopia Panel PreventionGenetics
United States | 285 | 137 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Leber congenital amaurosis 18, 608133, Autosomal recessive, Autosomal dominant (Retinitis pigmentosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Leber congenital amaurosis 18, 608133, Autosomal recessive, Autosomal dominant (Retinitis pigmentosa) (PRPH2 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
|
Retinitis pigmentosa 7, digenic, 608133, Autosomal recessive, Autosomal dominant (Retinitis pigmentosa) (ROM1 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
|
Retinitis pigmentosa 7 and digenic, 608133, Autosomal recessive, Autosomal dominant; RP7 (Retinitis pigmentosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Retinitis pigmentosa 7 and digenic, 608133, Autosomal recessive, Autosomal dominant; RP7 (Retinitis pigmentosa) (PRPH2 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
|
Invitae Inherited Retinal Disorders Panel Invitae
United States | 486 | 293 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
MVL Vision Panel Molecular Vision Laboratory
United States | 342 | 268 | - C Sequence analysis of the entire coding region
|
Retinitis Pigmentosa 7 via the ROM1 Gene PreventionGenetics
United States | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Retinitis Pigmentosa Panel PreventionGenetics
United States | 91 | 82 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
