Clinical and research tests for C1858805 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LORICRIN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Vohwinkel syndrome with ichthyosis, 604117, Autosomal dominant (Keratoderma hereditarium mutilans with ichthyosis) (LOR 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
Vohwinkel syndrome with ichthyosis, 604117, Autosomal dominant (Keratoderma hereditarium mutilans with ichthyosis) (LOR 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
Erythrokeratodermias and related disorders 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
Erythrokeratodermias and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Erythrokeratodermias and related disorders 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
LORICRIN Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain	58	31	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
Ichthyosis Asper Biogene Asper Biogene LLC Estonia	67	47	C Sequence analysis of the entire coding region
Ichthyosis NGS Panel Fulgent Genetics United States	98	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes Reference Laboratory Genetics Spain	4	4	C Sequence analysis of the entire coding region
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Reference Laboratory Genetics Spain	35	33	C Sequence analysis of the entire coding region
Vohwinkel with Ichthyosis Syndrome , Sequencing LOR Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Keratoderma hereditarium mutilans with ichthyosis Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Ichthyoses and related disorders of cornification Panel CeGaT GmbH Germany	42	65	C Sequence analysis of the entire coding region
LOR Institute of Human Genetics Medical University Innsbruck Austria	1	1	S Mutation scanning of the entire coding region
LOR Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis 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.