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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

EGR2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (MPZ 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

Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (MPZ 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

Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (EGR2 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

Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (EGR2 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

Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth disease Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5043
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5043
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5043
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atrial fibrillation NGS test

HNL Genomics Connective Tissue Gene Tests
United States
2219
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Atrial fibrillation Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
2219
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Atrial fibrillation Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
2219
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

Invitae
United States
12352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Arthrogryposis Panel    

GeneDx
United States
15691
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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.