Clinical and research tests for C0887850 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRKCSH - 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
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cystic Kidney Disease Panel Invitae United States	96	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic liver disease 1, 174050, Autosomal dominant; PCLD1 (Isolated polycystic liver disease) (PRKCSH 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
Polycystic liver disease 1, 174050, Autosomal dominant; PCLD1 (Isolated polycystic liver disease) (PRKCSH 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
Polycystic liver disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Polycystic liver disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic liver disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polycystic Liver Disease (PLD) Panel PreventionGenetics, part of Exact Sciences United States	7	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Isolated Polycystic Liver Disease (PCLD) Panel PreventionGenetics, part of Exact Sciences United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polycystic kidney disease panel. NGS panel of 10 genes. Genologica Medica Spain	17	10	C Sequence analysis of the entire coding region
Polycystic liver disease panel. 6-gene NGS panel. Genologica Medica Spain	11	6	C Sequence analysis of the entire coding region
Polycystic Kidney Disease Asper Biogene Asper Biogene LLC Estonia	38	23	C Sequence analysis of the entire coding region
Polycystic liver disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region

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