Clinical and research tests for C1866426 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SCID Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	65	50	C Sequence analysis of the entire coding region
FOXN1 - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	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
T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705, Autosomal recessive; TIIAC (Alymphoid cystic thymic dysgenesis) (FOXN1 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
T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705, Autosomal recessive; TIIAC (Alymphoid cystic thymic dysgenesis) (FOXN1 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 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
T-cell immunodeficiency, congenital alopecia, and nail dystrophy (sequence analysis of FOXN1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency Asper Biogene Asper Biogene LLC Estonia	61	43	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency (SCID) Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	38	24	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
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
B-Positive Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	38	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	D Deletion/duplication analysis C Sequence analysis of the entire coding region
T-cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy (FOXN1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Reference Laboratory Genetics Spain	16	18	C Sequence analysis of the entire coding region
FOXN1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
FOXN1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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