Clinical and research tests for 300248 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 110

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
IKBKG Gene Ectodermal dysplasia, hypohidrotic, with immune deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IKBKG Gene Immunodeficiency, isolated NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IKBKG Gene Incontinentia pigmenti type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IKBKG Gene Invasive pneumococcal disease, recurrent isolated type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IKBKG Gene Atypical Mycobacterial infection NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IKBKG - Sanger sequencing Centogene AG - the Rare Disease Company Germany	4	1	C Sequence analysis of the entire coding region
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
Invasive pneumococcal disease, recurrent isolated, 2, 300640; IPD2 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (IKBKG 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
Immunodeficiency, isolated, 300584 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (IKBKG 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
Immunodeficiency, isolated, 300584 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Immunodeficiency 33, 300636, X-linked recessive; IMD33 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (IKBKG 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
Immunodeficiency 33, 300636, X-linked recessive; IMD33 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invasive pneumococcal disease, recurrent isolated, 2, 300640; IPD2 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (IKBKG 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
Immunodeficiency 33, 300636, X-linked recessive; IMD33 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Incontinentia pigmenti, 308300, X-linked dominant; IP (Incontinentia pigmenti) (IKBKG 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
Immunodeficiency, isolated, 300584 (X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Incontinentia pigmenti, 308300, X-linked dominant; IP (Incontinentia pigmenti) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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