Clinical and research tests for C1849157 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
IGF1R - 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
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	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 Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Insulin-like growth factor I, resistance to, 270450, Autosomal recessive, Autosomal dominant (Growth delay due to insulin-like growth factor I resistance) (IGF1R 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
Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short stature with endocrinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short stature with endocrinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	16	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short stature with endocrinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	16	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
IGF1R Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region

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