Clinical and research tests for C1858695 - 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
GPSM2 - 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
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
CentoICU Panel Centogene US, LLC - The Rare Disease Company United States	829	848	C Sequence analysis of the entire coding region
GPSM2 - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Hydrocephalus Panel PreventionGenetics United States	40	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chudley-McCullough syndrome, 604213, Autosomal recessive; CMCS (Chudley-McCullough syndrome) (GPSM2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Chudley-McCullough syndrome, 604213, Autosomal recessive; CMCS (Chudley-McCullough syndrome) (GPSM2 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	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics United States	150	88	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
OtoGenome Test for Hearing Loss (110 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	23	109	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polymicrogyria panel. 17-gene NGS panel. Genologica Medica Spain	22	17	C Sequence analysis of the entire coding region
Periventricular heterotopia panel Genologica Medica Spain	52	20	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

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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.