Clinical and research tests for C1970879 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 26

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis 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
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
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) (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) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	T Targeted variant analysis
Incontinentia Pigmenti Common Deletion Analysis Baylor Genetics United States	4	1	T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
IKBKG Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Immunodeficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	69	60	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 26

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.