Clinical and research tests for C0267662 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
SLC26A3 - 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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Congenital Diarrhea Panel Labcorp Genetics (formerly Invitae) LabCorp United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (SLC26A3 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
Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Diarrhea 1, secretory chloride, congenital, 214700, Autosomal recessive; DIAR1 (Congenital chloride diarrhea) (SLC26A3 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
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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	D Deletion/duplication analysis
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
Congenital Diarrhea panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	20	20	C Sequence analysis of the entire coding region
Diarrhea, congenital: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	10	10	C Sequence analysis of the entire coding region
Congenital Diarrhea NGS Panel Fulgent Genetics United States	11	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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