Clinical and research tests for 167420 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Agnathia-otocephaly complex, 202650, Autosomal recessive, Autosomal dominant; AGOTC (Agnathia-holoprosencephaly-situs inversus syndrome) (PRRX1 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
Agnathia-otocephaly complex, 202650, Autosomal recessive, Autosomal dominant; AGOTC (Agnathia-holoprosencephaly-situs inversus syndrome) (PRRX1 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
Agnathia-Otocephaly Complex Panel PreventionGenetics, part of Exact Sciences United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Agnathia-Otocephaly Complex via the PRRX1 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
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	69	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
CRANIOSYNOSTOSIS PANEL Laboratorio de Genetica Clinica SL Spain	1	85	E Sequence analysis of select exons
MI Tumor Seek Hybrid Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
Agnathia-otocephaly complex: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	2	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	560	C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Caris MI TumorSeek Comprehensive Genomic Profile Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
Heterotaxy Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	156	114	C Sequence analysis of the entire coding region
PRRX1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	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.