Clinical and research tests for C0343111 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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 Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (KRT14 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
Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (KRT14 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
Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	124	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene PreventionGenetics, part of Exact Sciences United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
KRT14 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	6	1	D Deletion/duplication analysis
Dermatological. Full panel Genologica Medica Spain	122	68	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
Epidermolysis bullosa panel. NGS panel of 24 genes. Genologica Medica Spain	55	24	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
KRT14 Institute for Human Genetics University Medical Center Freiburg Germany	6	1	C Sequence analysis of the entire coding region
KRT14 Single Gene Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epidermolysis Bullosa NGS Panel Fulgent Genetics United States	32	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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