Clinical and research tests for 605039 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bohring-Opitz syndrome, 605039, Autosomal dominant; BOPS (Bohring-Opitz syndrome) (ASXL1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Bohring-Opitz syndrome, 605039, Autosomal dominant; BOPS (Bohring-Opitz syndrome) (ASXL1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of Î±-dystroglycan NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ASXL1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	D Deletion/duplication analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Wilms Tumor Panel PreventionGenetics, part of Exact Sciences United States	48	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bohring-Opitz Syndrome via the ASXL1 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
Cornelia de Lange Syndrome and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	43	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Periventricular heterotopia panel Genologica Medica Spain	52	20	C Sequence analysis of the entire coding region
ASXL1 exon 12 analysis Duzen Laboratories Duzen BBAGUAS Turkey	2	1	C Sequence analysis of the entire coding region
Cornelia de Lange syndrome Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	10	10	C Sequence analysis of the entire coding region
Bohring-Opitz Syndrome (ASXL1 Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bohring-Opitz Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Craniosynostosis Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	26	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange Syndrome Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing ASXL1 CeGaT GmbH Germany	2	1	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.