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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

DYNC2LI1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • 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

Polydactyly Panel

PreventionGenetics, part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Short-rib throacic dysplasia 15 with polydactyly, 617088, Autosomal recessive (Jeune syndrome) (DYNC2LI1 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

Short-rib throacic dysplasia 15 with polydactyly, 617088, Autosomal recessive (Jeune syndrome) (DYNC2LI1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia and skeletal ciliopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Disorders Panel

Baylor Genetics
United States
1354
  • 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

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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.