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Results: 21 to 40 of 75

Tests names and labsConditionsGenes, analytes, and microbesMethods

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155, Autosomal recessive; MDDGB1 (Congenital muscular dystrophy with cerebellar involvement) (Prenatal) (MLPA)

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

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155, Autosomal recessive; MDDGB1 (Congenital muscular dystrophy with cerebellar involvement) (POMT1 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

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155, Autosomal recessive; MDDGB1 (Congenital muscular dystrophy with cerebellar involvement) (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

Invitae Comprehensive Carrier Screen

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

Brain Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
7952
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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 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 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

Invitae Congenital Muscular Dystrophy Panel

Invitae
United States
6428
  • D Deletion/duplication analysis

Invitae Comprehensive Muscular Dystrophy Panel

Invitae
United States
11452
  • D Deletion/duplication analysis

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Limb-Girdle Muscular Dystrophy Panel

Invitae
United States
9137
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Walker-Warburg Syndrome via the POMT1 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Muscular Dystrophy (CMD) Panel

PreventionGenetics, part of Exact Sciences
United States
3428
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystroglycan-Related Congenital Muscular Dystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
2218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

POMT1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • D Deletion/duplication analysis

Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel.

Genologica Medica
Spain
9642
  • C Sequence analysis of the entire coding region

Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel.

Genologica Medica
Spain
6348
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 75

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.