IFNGR1 - 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
|
SP110 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae
United States | 755 | 562 | - D Deletion/duplication analysis
|
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics, part of Exact Sciences
United States | 29 | 17 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Mycobacterium tuberculosis, susceptibility to infection by, 607948 (Tuberculosis) (SLC11A1 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
|
Mycobacterium tuberculosis, susceptibility to, 607948 (Tuberculosis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Mycobacterium tuberculosis, susceptibility to, 607948 (TLR2 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
|
Mycobacterium tuberculosis, protection against, 607948 (Tuberculosis) (MC3R 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
|
Mycobacterium tuberculosis, susceptibility to, 607948 (Tuberculosis) (CCL2 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
|
Mycobacterium tuberculosis, protection against, 607948 (Tuberculosis) (IRGM 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
|
Mycobacterium tuberculosis, susceptibility to, 607948 (Tuberculosis) (SP110 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
|
Mycobacterium tuberculosis, susceptibility to, 607948 (Tuberculosis) (CD209 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
|
Tuberculosis, susceptibility to, 607948 (Tuberculosis) (CISH 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
|
Tuberculosis, protection against, 607948 (Tuberculosis) (IFNG 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
|
Tuberculosis, susceptibility to, 607948 (Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency) (IFNGR1 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
|
Tuberculosis infection, protection against, 607948 (Tuberculosis) (IFNGR1 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
|
Tuberculosis, protection against, 607948 (Tuberculosis) (TIRAP 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 Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae
United States | 177 | 130 | - D Deletion/duplication analysis
|
Invitae Primary Immunodeficiency Panel Invitae
United States | 552 | 424 | - D Deletion/duplication analysis
|
Monogenic obesity panel. 36-gene NGS panel. Genologica Medica
Spain | 55 | 36 | - C Sequence analysis of the entire coding region
|
