Clinical and research tests for C3151140 - 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
SEPSECS - 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
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	164	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
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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Pontocerebellar hypoplasia type 2D, 613811, Autosomal recessive; PCH2D (Pontocerebellar hypoplasia type 2) (SEPSECS 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 2D, 613811, Autosomal recessive; PCH2D (Pontocerebellar hypoplasia type 2) (SEPSECS 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
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 SEPSECS 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
SEPSECS Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
SEPSECS - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	1	1	C Sequence analysis of the entire coding region
Horizon 106 plus TSE Natera, Inc. United States	103	107	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 106 Natera, Inc. United States	103	106	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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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.