Clinical and research tests for C2931067 - 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
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
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	210	134	D Deletion/duplication analysis
Cholestasis Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	7	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp 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
Cholestasis, progressive familial intrahepatic 4, 615878, Autosomal recessive; PFIC4 (Progressive familial intrahepatic cholestasis) (TJP2 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
Cholestasis, progressive familial intrahepatic 4, 615878, Autosomal recessive; PFIC4 (Progressive familial intrahepatic cholestasis) (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
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	362	227	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Autosomal Dominant Hearing Loss. 25-gene NGS panel. Genologica Medica Spain	48	23	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
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
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

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