Clinical and research tests for C1842124 - 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
SIX1 - 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
Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel Invitae United States	67	41	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Branchiootic syndrome 3, 608389, Autosomal dominant; BOS3 (Branchio-otic syndrome) (SIX1 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
Branchiootic syndrome 3, 608389, Autosomal dominant; BOS3 (Branchio-otic syndrome) (SIX1 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
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	40	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Branchiootorenal Syndrome Panel PreventionGenetics, part of Exact Sciences United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Branchiootorenal Syndrome via the SIX1 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
SIX1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	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
Branchial-Oto-Renal Syndrome Panel. Panel NGS genes: EYA1, SIX1, SIX5, TFAP2A. Genologica Medica Spain	7	4	C Sequence analysis of the entire coding region
Renal malformation panel. NGS panel of 22 genes. Genologica Medica Spain	44	22	C Sequence analysis of the entire coding region
Branchiootic syndrome 3 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region

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