Clinical and research tests for 611358 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Dihydropyrimidine dehydrogenase deficiency (deletion/duplication analysis on DPYD gene) CGC Genetics Unilabs Portugal	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
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Macrocephaly Panel Genetic Services Laboratory University of Chicago United States	26	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MACROCEPHALY AND OVERGROWTH SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	80	E Sequence analysis of select exons
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	C Sequence analysis of the entire coding region
Macrocephaly/Overgrowth Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	43	C Sequence analysis of the entire coding region
Overgrowth Panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	45	E Sequence analysis of select exons
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
Megalencephaly Panel University of Washington Department of Laboratory Medicine University of Washington United States	1	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macrocephaly / Overgrowth Syndrome Panel Blueprint Genetics Finland	1	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromal Diseases - panels MGZ Medical Genetics Center Germany	14	342	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental Retardation and Dysmorphology - panels MGZ Medical Genetics Center Germany	15	343	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Overgrowth/Macrocephaly NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	16	16	C Sequence analysis of the entire coding region
Macrocephaly MGZ Medical Genetics Center Germany	1	42	C Sequence analysis of the entire coding region
Brain Malformations / Neuronal Migration Disorders MGZ Medical Genetics Center Germany	2	266	C Sequence analysis of the entire coding region
RNF135 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

Results: 1 to 20 of 20

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.

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Results: 1 to 20 of 20

Results: 1 to 20 of 20