Clinical and research tests for C1858726 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cataracts Panel PreventionGenetics United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Charcot-Marie-Tooth - Comprehensive Panel PreventionGenetics United States	53	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Cataracts Panel PreventionGenetics United States	44	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Cataracts NGS Panel Fulgent Genetics United States	106	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Cataracts, Facial Dysmorphism, And Neuropathy (CTDP1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cataracts Panel Invitae United States	46	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CTDP1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
180K CGH+SNP microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	231	1	D Deletion/duplication analysis H Detection of homozygosity
Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	20	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CTDP1 Single Gene Fulgent Genetics United States	1	1	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.