Clinical and research tests for C1832828 - 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
OTOF - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OTOF - 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
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
Auditory neuropathy, autosomal recessive, 1, 601071, Autosomal recessive (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (OTOF gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Deafness, autosomal recessive 9, 601071, Autosomal recessive; DFNB9 (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (OTOF 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 Recessive 9 (DFNB9) via the OTOF Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GJB2. Detection of the mutation c.35delG by sequencing IGENOMIX Spain	3	1	C Sequence analysis of the entire coding region
GJB2. Complete sequencing IGENOMIX Spain	3	1	C Sequence analysis of the entire coding region
OTOF. Complete sequencing IGENOMIX Spain	3	1	C Sequence analysis of the entire coding region
TECTA. Complete sequencing IGENOMIX Spain	3	1	C Sequence analysis of the entire coding region
GJB2 (Conexina 26). Detection of the mutation c.35delG by sequencing IGENOMIX Spain	3	1	T Targeted variant analysis
GJB2 (Conexina 26). Complete sequencing IGENOMIX Spain	3	1	C Sequence analysis of the entire coding region
OTOF,GJB3,GJB2,GJB6 complete sequencing and detection of the mutations m.3243A>G, m.1555A>G, m.1494C>T, m.1095T>C, m.1095T>C, m.961delInsC, m.961T>C, m.7445A>G and m.7445A>C IGENOMIX Spain	2	4	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
Autosomal recessive hearing loss. 41-gene NGS panel. Genologica Medica Spain	65	41	C Sequence analysis of the entire coding region

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