Clinical and research tests for 607453 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Deafness, autosomal dominant 44, 607453, Autosomal dominant; DFNA44 (Autosomal dominant non-syndromic sensorineural deafness type DFNA) (CCDC50 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
AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	122	128	E Sequence analysis of select exons
CCDC50 - 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
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	362	227	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 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
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Deafness, autosomal dominant 44 (sequence analysis of CCDC50 gene) CGC Genetics Unilabs Portugal	1	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
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
Nonsyndromic Hearing Loss NGS Panel Fulgent Genetics United States	146	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hearing Loss NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	198	157	C Sequence analysis of the entire coding region
CCDC50 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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