Clinical and research tests for C1840299 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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 Invitae United States	77	45	D Deletion/duplication analysis
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae 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
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
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
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
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
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
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 panel. 31-gene NGS panel. Genologica Medica Spain	58	31	C Sequence analysis of the entire coding region
Epidermolysis bullosa panel. NGS panel of 24 genes. Genologica Medica Spain	55	24	C Sequence analysis of the entire coding region
Ichthyosis Asper Biogene Asper Biogene LLC Estonia	67	47	C Sequence analysis of the entire coding region
Hypotrichosis Asper Biogene Asper Biogene LLC Estonia	15	11	C Sequence analysis of the entire coding region
Epidermolysis Bullosa Asper Biogene Asper Biogene LLC Estonia	48	25	C Sequence analysis of the entire coding region
CDSN Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Hypotrichosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	11	C Sequence analysis of the entire coding region
Nonsyndromic Hypotrichosis NGS Panel Fulgent Genetics United States	24	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HYPOTRICHOSIS SIMPLEX Laboratorio de Genetica Clinica SL Spain	2	10	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.