Clinical and research tests for C0079683 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
LAMB3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany	75	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae United States	95	45	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skin and Connective Tissue Disorders Panel PreventionGenetics United States	125	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amelogenesis Imperfecta Panel PreventionGenetics United States	20	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Junctional Epidermolysis Bullosa via the LAMC2 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Junctional Epidermolysis Bullosa via the LAMB3 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Junctional Epidermolysis Bullosa via the LAMA3 Gene PreventionGenetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis Bullosa and Related Disorders Panel PreventionGenetics United States	31	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Super Panel Plus NxGen MDx United States	116	117	D Deletion/duplication analysis E Sequence analysis of select exons 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.