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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

KDSR - NGS including CNV analysis

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

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • 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 Congenital Ichthyosis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7745
  • D Deletion/duplication analysis

Platelet Function Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Thrombocytopenia Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Erythrokeratodermias and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • 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
77
  • 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
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KDSR - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Platelet Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
6063
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

KDSR

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Erythrokeratodermia variabilis et progressiva: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.