Clinical and research tests for C0175701 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 49

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	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
Cardiomyopathy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	170	71	C Sequence analysis of the entire coding region
Cardiomyopathy Panel, Hypertrophic CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	85	35	C Sequence analysis of the entire coding region
Cardiomyopathy Panel, Dilated CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	134	48	C Sequence analysis of the entire coding region
Noonan Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	36	13	C Sequence analysis of the entire coding region
Mental retardation, X-linked syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	33	31	C Sequence analysis of the entire coding region
Aarskog-Scott Syndrome (FGD1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Athena Diagnostics United States	57	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AARSKOG SYNDROME (FACIODIGITOGENITAL SYNDROME OR FACIOGENITAL DYSPLASIA) Laboratorio de Genetica Clinica SL Spain	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Syndrome Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	5	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Aarskog-Scott syndrome Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing FGD1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
FGD1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XLID (X-Linked Intellectual Disability) NGS Panel Fulgent Genetics United States	162	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Stature NGS Panel Fulgent Genetics United States	24	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 49

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.