CIITA - 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
|
RFX5 - 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
|
RFXANK - 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
|
CentoImmuno Panel Centogene AG - the Rare Disease Company
Germany | 323 | 329 | - 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
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae
United States | 755 | 562 | - D Deletion/duplication analysis
|
Bare lymphocyte syndrome, type II, complementation group C, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFX5 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
|
Bare lymphocyte syndrome, type II, complementation group A, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (CIITA 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
|
Bare lymphocyte syndrome, type II, complementation group C, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFX5 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
|
Bare lymphocyte syndrome, type II, complementation group D, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXAP 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
|
Bare lymphocyte syndrome, type II, complementation group D, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXAP 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
|
Bare lymphocyte syndrome, type II, complementation group A, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (CIITA 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
|
MHC class II deficiency, complementation group B, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXANK 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
|
MHC class II deficiency, complementation group B, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXANK 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 Carrier Screen Invitae
United States | 886 | 547 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae
United States | 223 | 154 | - D Deletion/duplication analysis
|
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
|
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL
Spain | 328 | 300 | - C Sequence analysis of the entire coding region
|
Targeted Variant Analysis Integrated Genetics Westborough LabCorp
United States | 330 | 746 | - T Targeted variant analysis
|
