Clinical and research tests for C2746083 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LOXHD1 - 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
CentoScreen Centogene US, LLC - The Rare Disease Company United States	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
LOXHD1 - 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
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	165	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Ashkenazi Jewish Panel Ambry Genetics United States	51	48	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 Corneal Dystrophies Panel Invitae United States	65	33	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
Invitae Comprehensive Carrier Screen without X-linked Disorders Invitae United States	228	279	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	247	301	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Corneal Dystrophies Panel PreventionGenetics United States	40	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Deafness, Autosomal Recessive 77 (DFNB77) via the LOXHD1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.