Clinical and research tests for 51256 - Genetic Testing Registry (GTR)

Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Overgrowth Syndromes Panel Invitae United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000, Autosomal recessive; MGCPH (Megalencephaly) (TBC1D7 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
Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000, Autosomal recessive; MGCPH (Megalencephaly) (TBC1D7 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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis 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
Macrocephaly Panel Genetic Services Laboratory University of Chicago United States	26	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	35	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
Comprehensive Dementia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	10	145	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
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	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
TBC1D7 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis 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

Results: 1 to 17 of 17

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 1 to 17 of 17

Results: 1 to 17 of 17