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Results: 1 to 20 of 139

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Pan Cardiomyopathy Panel (62 Genes)

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine
United States
10061
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Invitae eMERGE Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LMNA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae eMERGE Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5916
  • D Deletion/duplication analysis

Invitae Hypogonadotropic Hypogonadism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6746
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Limb girdle muscular dystrophy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb girdle muscular dystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb girdle muscular dystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LowBoneDensityZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
11050
  • C Sequence analysis of the entire coding region

Emery-Dreifuss muscular dystrophy 2, AD, 181350, Autosomal dominant; EDMD2 (Emery-Dreifuss muscular dystrophy) (MLPA)

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

Emery-Dreifuss muscular dystrophy 2, AD, 181350, Autosomal dominant; EDMD2 (Emery-Dreifuss muscular dystrophy) (LMNA 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

Generalized, Partial and Atypical Lipodystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
5729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Partial Lipodystrophy (FPLD) Panel

PreventionGenetics, part of Exact Sciences
United States
2916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 139

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.