Clinical and research tests for 114090 - Genetic Testing Registry (GTR)

Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CAST Gene Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Congenital Ichthyosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	77	45	D Deletion/duplication analysis
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295, Autosomal recessive; PLACK (Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome) (CAST gene) (Sequence Analysis-All Coding Exons) ( Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Peeling skin syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peeling skin syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Peeling skin syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Epidermolyisis Bullosa Panel Mendelics Brazil	1	25	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
CAST Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
AGA Prenatal Sequence Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons

Results: 1 to 15 of 15

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Results: 1 to 15 of 15

Results: 1 to 15 of 15