Clinical and research tests for C1854594 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
SIX1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	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
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
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Deafness, autosomal dominant 23, 605192, Autosomal dominant; DFNA23 (Autosomal dominant non-syndromic sensorineural deafness type DFNA) (SIX1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre 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	526	339	C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Clefting (WES based NGS panel of 231 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	410	231	C Sequence analysis of the entire coding region
Branchiootorenal syndrome (NGS panel of 3 genes) Unilabs Genetics CGC Genetics Portugal	6	3	C Sequence analysis of the entire coding region
Deafness, autosomal dominant 23 (sequence analysis of SIX1 gene) Unilabs Genetics CGC Genetics Portugal	3	1	C Sequence analysis of the entire coding region
Branchiootic syndrome 3 ; Deafness, autosomal dominant 23 (deletion/duplication analysis on SIX1 gene) Unilabs Genetics CGC Genetics Portugal	3	1	D Deletion/duplication analysis
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	163	69	C Sequence analysis of the entire coding region
Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel for 66 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	89	66	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

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