Clinical and research tests for 607066 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GJB6 Gene Deafness, autosomal dominant type 3B NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
TRPV3 Gene Olmsted syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
TRPV3 - 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
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Olmsted syndrome, 614594, Autosomal dominant (Mutilating palmoplantar keratoderma with periorificial keratotic plaques) (TRPV3 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
Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400, Autosomal dominant; FNEPPK2 (Isolated focal non-epidermolytic palmoplantar keratoderma) (TRPV3 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
Olmsted syndrome, 614594, Autosomal dominant (Mutilating palmoplantar keratoderma with periorificial keratotic plaques) (TRPV3 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Olmsted syndrome (sequence analysis of TRPV3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
PACHYONYCHIA CONGENITA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	7	E Sequence analysis of select exons
Congenital pachyonychia panel. 7-gene NGS panel. Genologica Medica Spain	10	7	C Sequence analysis of the entire coding region
Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain	62	25	C Sequence analysis of the entire coding region
Palmoplantar keratoderma, nonepidermolytic, focal 2: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Palmoplantar Keratoderma Asper Biogene Asper Biogene LLC Estonia	18	11	C Sequence analysis of the entire coding region
TRPV3 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	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.