Clinical and research tests for C1833503 - 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
CentoHear Panel Centogene US, LLC - The Rare Disease Company United States	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MYH14 - 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
MYH14 - 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
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Deafness, autosomal dominant 4A, 600652, Autosomal dominant; DFNA4A (Autosomal dominant non-syndromic sensorineural deafness type DFNA) (MYH14 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	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
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene PreventionGenetics United States	1	1	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
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (WES based NGS panel of 178 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	328	178	C Sequence analysis of the entire coding region
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (WES based NGS panel of 178 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	328	178	C Sequence analysis of the entire coding region
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	316	180	C Sequence analysis of the entire coding region
Deafness, autosomal dominant 4 (sequence analysis of MYH14 gene) Unilabs Genetics CGC Genetics Portugal	2	1	C Sequence analysis of the entire coding region
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	451	240	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
Deafness, autosomal dominant: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	40	39	C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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