Clinical and research tests for 10381 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 98

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Brain malformation Amplexa Genetics Amplexa Genetics A/S Denmark	1	41	S Mutation scanning 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
Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States	46	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel PreventionGenetics, part of Exact Sciences United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via the TUBB3 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	98	C Sequence analysis of the entire coding region
Epilepsy Panel Baylor Genetics United States	1	397	C Sequence analysis of the entire coding region
Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States	1	419	C Sequence analysis of the entire coding region
Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal	1	427	C Sequence analysis of the entire coding region
Neuro-Ophthalmology Panel CGC Genetics Unilabs Portugal	1	223	C Sequence analysis of the entire coding region
Malformations of cortical development panel CGC Genetics Unilabs Portugal	5	111	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Epilepsy panel_v.2.0 CGC Genetics Unilabs Portugal	1	759	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
Tubulopathies (WES based NGS panel of 7 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	7	C Sequence analysis of the entire coding region
Congenital fibrosis of extraocular muscles (sequence analysis of TUBB3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
SPASTIC PARAPARESIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	160	E Sequence analysis of select exons

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Results: 21 to 40 of 98

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: 21 to 40 of 98

Results: 21 to 40 of 98