Clinical and research tests for C3698541 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Aortopathy Comprehensive Panel Invitae United States	60	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via the MED12 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Periventricular heterotopia panel Genologica Medica Spain	52	20	C Sequence analysis of the entire coding region
Marfan syndrome panel. 30-gene NGS panel. Genologica Medica Spain	71	30	C Sequence analysis of the entire coding region
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
MED12 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	D Deletion/duplication analysis
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	C Sequence analysis of the entire coding region
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region
MED12 Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Ohdo Syndrome, Maat-Kievit-Brunner Type (MED12 Single Gene Test) Fulgent Genetics United States	3	1	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
Lujan Syndrome (MED12 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macrocephaly/Overgrowth Syndrome NGS Panel Fulgent Genetics United States	100	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Overgrowth and Macrocephaly Syndromes Panel Invitae United States	43	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 50

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.