Clinical and research tests for C0265306 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 77

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Greig cephalopolysyndactyly syndrome, 175700, Autosomal dominant; GCPS (Greig cephalopolysyndactyly syndrome) (GLI3 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
Greig cephalopolysyndactyly syndrome, 175700, Autosomal dominant; GCPS (Greig cephalopolysyndactyly syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Greig cephalopolysyndactyly syndrome, 175700, Autosomal dominant; GCPS (Greig cephalopolysyndactyly syndrome) (GLI3 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
Greig cephalopolysyndactyly syndrome, 175700, Autosomal dominant; GCPS (Greig cephalopolysyndactyly syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	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
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Greig cephalopolysyndactyly syndrome Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Greig cephalopolysyndactyly syndrome Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Greig cephalopolysyndactyly syndrome NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	26	C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	82	77	D Deletion/duplication analysis 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.