Clinical and research tests for C0796022 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First < Prev

Page 3 of 4

Results: 41 to 60 of 61

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
LUJAN-FRYNS SYNDROME (X-LINKED MENTAL RETARDATION WITH MARFANOID HABITUS) Laboratorio de Genetica Clinica SL Spain	1	3	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Invitae Overgrowth and Macrocephaly Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	43	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	44	40	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
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Selected Genetic Syndromes with Seizures Panel CeGaT GmbH Germany	5	20	C Sequence analysis of the entire coding region
MED12 Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	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
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epileptic syndromes with epilepsy and intellectual disability panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	74	50	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Connective Tissue NGS Panel Fulgent Genetics United States	187	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism NGS Panel Fulgent Genetics United States	170	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiovascular NGS Panel Fulgent Genetics United States	671	250	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel Fulgent Genetics United States	65	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lujan Fryns syndrome Praxis fuer Humangenetik Wien Austria	1	1	C Sequence analysis of the entire coding region

<< First < Prev

Page 3 of 4

Results: 41 to 60 of 61

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.