Clinical and research tests for 1041 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CDSN Gene Hypotrichosis type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CDSN Gene Peeling skin syndrome type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CDSN - 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
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
Hypotrichosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypotrichosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	28	C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa NGS panel HNL Genomics Connective Tissue Gene Tests United States	13	23	C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypotrichosis 2, 146520, Autosomal dominant; HYPT2 (Hypotrichosis simplex of the scalp) (CDSN 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
Peeling skin syndrome 1, 270300, Autosomal recessive; PSS1 (Peeling skin syndrome type B) (CDSN 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
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

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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.