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Results: 1 to 20 of 66

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

MUSK - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
5831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal congenital contracture syndrome and related disorders NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fetal akinesia deformation sequence, 208150, Autosomal recessive (Fetal akinesia deformation sequence) (MUSK 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

Fetal akinesia deformation sequence, 208150, Autosomal recessive (Fetal akinesia deformation sequence) (MUSK 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

Fetal akinesia deformation sequence, 208150, Autosomal recessive (Fetal akinesia deformation sequence) (RAPSN 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

Fetal akinesia deformation sequence, 208150, Autosomal recessive (Fetal akinesia deformation sequence) (RAPSN 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

Fetal akinesia deformation sequence, 208150, Autosomal recessive; FADS (Fetal akinesia deformation sequence) (DOK7 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

Fetal akinesia deformation sequence, 208150, Autosomal recessive; FADS (Fetal akinesia deformation sequence) (DOK7 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

NeuromuscularZoom

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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal congenital contracture syndrome and related disorders NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 66

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.