Clinical and research tests for 6491 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
STIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
STIL - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Hematologic Cancer Fusion Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	147	R RNA analysis
Hematological Malignancy Fusion Panel Laboratory for Molecular Pediatric Pathology Boston Children's Hospital United States	8	71	R RNA analysis
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
FusionPlex Pan-Heme Panel Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	6	49	R RNA analysis
Microcephaly 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (STIL 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 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Microcephaly 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (STIL 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
Microcephaly 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Holoprosencephaly Panel Genetic Services Laboratory University of Chicago United States	2	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Microcephaly, Autosomal Recessive, via the STIL 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

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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.