Clinical and research tests for 603718 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CLDN1 - 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
Invitae Congenital Ichthyosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	77	45	D Deletion/duplication analysis
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	210	134	D Deletion/duplication analysis
Cholestasis Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	7	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626, Autosomal recessive; ILVASC (Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome) (CLDN1 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
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626, Autosomal recessive; ILVASC (Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome) (CLDN1 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
Next Generation Sequencing for Jaundice Associated Genes Variation Test National Taiwan University Hospital A1 Center National Taiwan University Hospital Taiwan	4	73	C Sequence analysis of the entire coding region
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Congenital Ichthyosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	57	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Congenital Ichthyosis Slice GeneDx United States	1	49	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyosis and Ectodermal Dysplasia Panel Mendelics Brazil	2	58	C Sequence analysis of the entire coding region
ICHTHYOSIFORM ERYTHRODERMA CONGENITAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	60	E Sequence analysis of select exons
ICTHYOSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	60	E Sequence analysis of select exons
Amelogenesis Bioarray Spain	1	172	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

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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.