Clinical and research tests for C5774176 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SCNN1A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SCNN1B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SCNN1G - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Renal Tubular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	68	39	D Deletion/duplication analysis
Pseudohypoaldosteronism, type I, 264350, Autosomal recessive (Generalized pseudohypoaldosteronism type 1) (SCNN1B 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
Pseudohypoaldosteronism, type I, 264350, Autosomal recessive; PHA1B (Generalized pseudohypoaldosteronism type 1) (SCNN1A 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
Pseudohypoaldosteronism, type I, 264350, Autosomal recessive (Generalized pseudohypoaldosteronism type 1) (SCNN1G 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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
Pseudohypoaldosteronism Type I Panel PreventionGenetics, part of Exact Sciences United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A 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
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Bronchiectasis panel. NGS panel of 15 genes. Genologica Medica Spain	19	15	C Sequence analysis of the entire coding region
Pseudohypoaldosterolism panel. NGS panel of 10 genes. Genologica Medica Spain	15	10	C Sequence analysis of the entire coding region
Liddle syndrome panel. Panel NGS genes: SCNN1B, SCNN1G. Genologica Medica Spain	4	2	C Sequence analysis of the entire coding region
Monogenic Hypertension Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	16	11	C Sequence analysis of the entire coding region

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