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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Adams-Oliver Syndrome Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
98
  • D Deletion/duplication analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • 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
78
  • 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
11
  • C Sequence analysis of the entire coding region

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • 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 University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Genomic Unity® Renal Disorders Analysis

Variantyx, Inc.
United States
1425
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Nephrology Panel 

CGC Genetics Unilabs
Portugal
1334
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Scalp-ear-nipple syndrome (sequence analysis of KCTD1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

ADAMS-OLIVER SYNDROME EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
18
  • E Sequence analysis of select exons

Adams-Oliver syndrome panel. 8-gene NGS panel.

Genologica Medica
Spain
98
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Scalp-Ear-Nipple Syndrome (KCTD1 Single Gene Test)

Fulgent Genetics
United States
481
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Adams-Oliver Syndrome Panel

Blueprint Genetics
Finland
18
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KCTD1 Single Gene

Fulgent Genetics
United States
481
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.