Clinical and research tests for 609173 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary nonpolyposis colorectal cancer (HNPCC, sequencing and CNV analysis of MLH1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KNL1 - 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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly 4, primary, autosomal recessive, 604321, Autosomal recessive; MCPH4 (Autosomal recessive primary microcephaly) (KNL1 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
Microcephaly 4, primary, autosomal recessive, 604321, Autosomal recessive; MCPH4 (Autosomal recessive primary microcephaly) (KNL1 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Primary Microcephaly, Autosomal Recessive, Panel PreventionGenetics, part of Exact Sciences United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
KNL1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Microcephaly and pontocerebellar hypoplasia (WES based panel of 53 genes, incluiding CNV analysis) CGC Genetics Unilabs Portugal	1	53	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	C Sequence analysis of the entire coding region
Microcephaly 4, primary, AR (sequence analysis of CASC5 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
CASC5. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	D Deletion/duplication analysis
MI Tumor Seek Hybrid Caris Life Sciences United States	1	591	R RNA analysis 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
Microcephaly Xpanded Panel GeneDx United States	1	877	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.