Clinical and research tests for 606603 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CLCN7 Gene Osteopetrosis, autosomal dominant type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
EDARADD Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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 Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941, Autosomal recessive; ECTD11B (Hypohidrotic ectodermal dysplasia) (EDARADD 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
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940, Autosomal dominant; ECTD11A (Hypohidrotic ectodermal dysplasia) (EDARADD 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
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941, Autosomal recessive; ECTD11B (Hypohidrotic ectodermal dysplasia) (EDARADD 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
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940, Autosomal dominant; ECTD11A (Hypohidrotic ectodermal dysplasia) (EDARADD 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
Ectodermal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Tooth Agenesis Panel PreventionGenetics, part of Exact Sciences 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 Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Ectodermal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	11	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal Dysplasia via the EDARADD 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
EDARADD MLPA Institute for Human Genetics University Medical Center Freiburg Germany	2	1	D Deletion/duplication analysis
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	42	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	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.