Clinical and research tests for KCTD1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	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 Adams-Oliver Syndrome Panel Invitae United States	9	8	D Deletion/duplication analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Scalp-ear-nipple syndrome, 181270, Autosomal dominant; SENS (Scalp-ear-nipple syndrome) (KCTD1 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Nephrology Panel CGC Genetics Unilabs Portugal	1	334	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Scalp-ear-nipple syndrome (sequence analysis of KCTD1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
ADAMS-OLIVER SYNDROME EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	8	E Sequence analysis of select exons
Adams-Oliver syndrome panel. 8-gene NGS panel. Genologica Medica Spain	9	8	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
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics Inc United States	1	1722	C Sequence analysis of the entire coding region
Scalp-Ear-Nipple Syndrome (KCTD1 Single Gene Test) Fulgent Genetics United States	48	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adams-Oliver Syndrome Panel Blueprint Genetics Finland	1	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KCTD1 Single Gene Fulgent Genetics United States	48	1	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.