Clinical and research tests for C1970431 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 72

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Corneal Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	40	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pitt-Hopkins Syndrome via the TCF4 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Rett/Angelman Syndrome Panel Genetic Services Laboratory University of Chicago United States	21	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TCF4 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
TCF4 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	2	1	D Deletion/duplication analysis
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Rett syndrome panel. 8-gene NGS panel. Genologica Medica Spain	13	8	C Sequence analysis of the entire coding region
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain	197	128	C Sequence analysis of the entire coding region
Corneal dystrophy panel. NGS panel of 27 genes. Genologica Medica Spain	44	27	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
Rett syndrome and other related syndromes. 34-gene NGS panel. Genologica Medica Spain	58	34	C Sequence analysis of the entire coding region
Rett/Angelman & Related Disorders Panel GeneDx United States	6	20	D Deletion/duplication analysis M Methylation analysis C Sequence analysis of the entire coding region
Microcephaly Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	67	48	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
Rett & Angelman Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	38	21	C Sequence analysis of the entire coding region
Epilepsy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	132	83	C Sequence analysis of the entire coding region
TCF4 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
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Corneal Dystrophy NGS Panel Fulgent Genetics United States	47	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 72

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.

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Results: 21 to 40 of 72

Results: 21 to 40 of 72