Clinical and research tests for C5542604 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TJP2 - 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
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypercholanemia, familial, 607748; FHCA (Familial hypercholanemia) (TJP2 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
Hypercholanemia, familial, 607748 (Familial hypercholanemia) (EPHX1 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
Hypercholanemia, familial, 607748 (Familial hypercholanemia) (BAAT 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
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain	146	94	C Sequence analysis of the entire coding region
Congenital liver fibrosis panel. NGS panel of 52 genes. Genologica Medica Spain	89	50	C Sequence analysis of the entire coding region
EPHX1 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
Hearing Loss, Comprehensive Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	142	84	C Sequence analysis of the entire coding region
Cholestasis panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	23	23	C Sequence analysis of the entire coding region
Intrahepatic Cholestasis NGS Panel Fulgent Genetics United States	15	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipid Metabolism Deficiency NGS Panel Fulgent Genetics United States	80	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nonsyndromic Hearing Loss NGS Panel Fulgent Genetics United States	146	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Abnormal Mineralization NGS Panel Fulgent Genetics United States	77	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peroxisomal Disorders Sequencing Panel Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic	14	34	C Sequence analysis of the entire coding region
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Reference Laboratory Genetics Spain	34	28	C Sequence analysis of the entire coding region

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