Clinical and research tests for 300121 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 130

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (DCX 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
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (DCX 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
Subcortical laminal heteropia, X-linked, 300067, X-linked (Subcortical band heterotopia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Subcortical laminal heteropia, X-linked, 300067, X-linked (Subcortical band heterotopia) (DCX 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
Subcortical laminal heteropia, X-linked, 300067, X-linked (Subcortical band heterotopia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Subcortical laminal heteropia, X-linked, 300067, X-linked (Subcortical band heterotopia) (DCX 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
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
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
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
Brain Malformation Panel PreventionGenetics, part of Exact Sciences United States	79	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 core NGS test HNL Genomics Connective Tissue Gene Tests United States	11	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	11	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	11	10	D Deletion/duplication analysis C Sequence analysis 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

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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.