Clinical and research tests for C0796124 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
ARX - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	5	1	T Targeted variant analysis
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Disorders of Sex Development Panel Invitae United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Proud syndrome, 300004, X-linked (Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome) (ARX 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
Proud syndrome, 300004, X-linked (Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Proud syndrome, 300004, X-linked (Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome) (ARX 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
Proud syndrome, 300004, X-linked (Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome) (ARX 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
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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