Clinical and research tests for C1853296 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 24

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Spondylocostal Dysostosis Panel Invitae United States	7	8	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylocostal dysostosis 3, autosomal recessive, 609813; SCDO3 (Autosomal recessive spondylocostal dysostosis) (LFNG 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
Spondylocostal dysostosis 3, autosomal recessive, 609813; SCDO3 (Autosomal recessive spondylocostal dysostosis) (LFNG 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
Spondylocostal dysostosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	6	6	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylocostal dysostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylocostal dysostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondylocostal Dysostosis via the LFNG 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
Spondylocostal Dysostosis Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
LFNG Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	6	C Sequence analysis of the entire coding region
Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain	5	5	C Sequence analysis of the entire coding region
SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) Laboratorio de Genetica Clinica SL Spain	5	5	C Sequence analysis of the entire coding region
Autosomal Recessive Spondylocostal Dysostosis Type 3 , Sequencing LFNG Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Autosomal recessive spondylocostal dysostosis type 3 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Autosomal recessive spondylocostal dysostosis type 3 Bioarray Spain	1	1	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 24

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.