Clinical and research tests for C4552001 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ORC1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States	48	38	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Meier-Gorlin syndrome 1, 224690, Autosomal recessive; MGORS1 (Ear-patella-short stature syndrome) (ORC1 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
Meier-Gorlin syndrome 1, 224690, Autosomal recessive; MGORS1 (Ear-patella-short stature syndrome) (ORC1 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
ORC1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Meier-Gorlin syndrome panel. 6-gene NGS panel. Genologica Medica Spain	6	6	C Sequence analysis of the entire coding region
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain	33	24	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
Meier-Gorlin syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	8	8	C Sequence analysis of the entire coding region
Meier-Gorlin Syndrome , Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain	5	5	C Sequence analysis of the entire coding region
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	12	12	C Sequence analysis of the entire coding region
Meier-Gorlin Syndrome Type 1 , Sequencing ORC1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Brain malformations Asper Biogene Asper Biogene LLC Estonia	318	252	C Sequence analysis of the entire coding region
Meier-Gorlin syndrome Bicknell laboratory University of Otago New Zealand	8	7	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.