Clinical and research tests for 23126 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
POGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Neurodevelopmental Disorders Panel Bionano Laboratories United States	4	207	E Sequence analysis of select exons
CentoICU Panel Centogene US, LLC - The Rare Disease Company United States	829	848	C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene US, LLC - The Rare Disease Company United States	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
POGZ - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POGZ - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Diaphragmatic Hernia Panel PreventionGenetics United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability exome Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (ASD) Panel PreventionGenetics United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
White-Sutton syndrome, 616364, Autosomal dominant; WHSUS (Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome) (POGZ gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
White-Sutton syndrome, 616364, Autosomal dominant; WHSUS (Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome) (POGZ gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
White-Sutton Syndrome via the POGZ Gene PreventionGenetics 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.