Clinical and research tests for C1846008 - Genetic Testing Registry (GTR) - NCBI

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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
Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (Hypohidrotic ectodermal dysplasia) (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
Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (Hypohidrotic ectodermal dysplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation) Molecular Diagnostic Laboratory LabCorp United States	1	1	E Sequence analysis of select exons
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing) Molecular Diagnostic Laboratory LabCorp United States	1	1	C Sequence analysis of the entire coding region
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
IKBKG/NEMO Gene Sequencing (2 day STAT TAT) Machaon Diagnostics United States	2	1	E Sequence analysis of select exons
IKBKG Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	19	18	C Sequence analysis of the entire coding region
Humoral dysfunction panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	25	25	C Sequence analysis of the entire coding region
Ectodermal dysplasia and immune deficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	12	9	C Sequence analysis of the entire coding region
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency , Sequencing IKBKG Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region
Defects in innate immunity Panel CeGaT GmbH Germany	16	19	C Sequence analysis of the entire coding region

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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.