Clinical and research tests for C0004779 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 120

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Multi-Cancer + RNA Panel Invitae United States	143	63	D Deletion/duplication analysis
VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Overgrowth Syndromes Panel Invitae United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Basal cell nevus syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Basal cell nevus syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Basal cell nevus syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Basal cell nevus syndrome, 109400, Autosomal dominant (Gorlin syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Basal cell nevus syndrome, 109400, Autosomal dominant (Gorlin syndrome) (PTCH1 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
Basal cell nevus syndrome, 109400, Autosomal dominant (Gorlin syndrome) (PTCH1 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
Basal cell nevus syndrome, 109400, Autosomal dominant (Gorlin syndrome) (SUFU 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
Basal cell nevus syndrome, 109400, Autosomal dominant (Gorlin syndrome) (SUFU 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
Basal cell nevus syndrome, 109400, Autosomal dominant; BCNS (Gorlin syndrome) (PTCH2 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
Basal cell nevus syndrome, 109400, Autosomal dominant; BCNS (Gorlin syndrome) (PTCH2 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
Basal cell nevus syndrome, 109400, Autosomal dominant (Gorlin syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Medulloblastoma Panel PreventionGenetics, part of Exact Sciences United States	21	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region

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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.