Clinical and research tests for C0018784 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Sensorineural hearing loss, connexin 26 and 30 (GJB2 and GJB6 genes) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	2	X Mutation scanning of select exons T Targeted variant analysis
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
Inherited Loss of Hearing Panel Dhiti Omics Technologies Private Ltd India	8	179	C Sequence analysis of the entire coding region
Hearing Loss Test GeneDx United States	56	150	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
65 mtDNA Point Mutations plus Large Deletions Panel GeneDx United States	17	65	D Deletion/duplication analysis T Targeted variant analysis
Mito Genome Sequencing & Deletion Testing GeneDx United States	24	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	75	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Riboflavin Transporter Deficiency Neuronopathy NGS Panel Fulgent Genetics United States	48	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MEGDEL Syndrome (SERAC1 Single Gene Test) Fulgent Genetics United States	22	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyper-IgE Syndrome NGS Panel Fulgent Genetics United States	30	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis 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
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
B-Negative Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	73	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	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

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