Clinical and research tests for C1856974 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region 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
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	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
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Pontocerebellar hypoplasia type 4, 225753, Autosomal recessive (Pontocerebellar hypoplasia type 4) (TSEN54 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
Pontocerebellar hypoplasia type 4, 225753, Autosomal recessive (Pontocerebellar hypoplasia type 4) (TSEN54 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brain Malformation Panel PreventionGenetics, part of Exact Sciences United States	79	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pontocerebellar Hypoplasia Panel PreventionGenetics, part of Exact Sciences United States	14	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pontocerebellar Hypoplasia via the TSEN54 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pontocerebellar Hypoplasia via the TSEN34 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pontocerebellar Hypoplasia via the TSEN2 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TSEN54 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis 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.