Clinical and research tests for C0162359 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
EDA - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene US, LLC - The Rare Disease Company United States	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoSkin Panel Centogene US, LLC - The Rare Disease Company United States	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
EDA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100, X-linked recessive; XHED (X-linked hypohidrotic ectodermal dysplasia) (EDA gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100, X-linked recessive; XHED (X-linked hypohidrotic ectodermal dysplasia) (EDA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100, X-linked recessive; XHED (X-linked hypohidrotic ectodermal dysplasia) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100, X-linked recessive; XHED (X-linked hypohidrotic ectodermal dysplasia) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Invitae Comprehensive Carrier Screen Invitae United States	247	301	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectodermal dysplasia 1, hypohidrotic, X-linked Sequencing Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia 1, hypohidrotic, X-linked 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
Ectodermal dysplasia 1, hypohidrotic, X-linked 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
Tooth Agenesis Panel PreventionGenetics United States	15	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
Ectodermal Dysplasia Panel PreventionGenetics United States	11	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal Dysplasia via the EDA Gene PreventionGenetics United States	2	1	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.