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Results: 1 to 20 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hydrops fetalis panel for lysosomal disorders

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
237
  • E Enzyme assay

GBA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Gaucher Common Variants Test

Invitae
United States
71
  • D Deletion/duplication analysis

Invitae Hereditary Parkinson Disease and Parkinsonism Panel

Invitae
United States
4426
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, Part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gaucher disease, perinatal lethal, 608013, Autosomal recessive (Gaucher disease) (GBA 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

Gaucher disease, perinatal lethal, 608013, Autosomal recessive (Gaucher disease) (GBA 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

Gaucher disease, perinatal lethal, 608013, Autosomal recessive (Gaucher disease) (Prenatal) (MLPA)

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

Gaucher disease, perinatal lethal, 608013, Autosomal recessive (Gaucher disease) (MLPA)

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

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
163128
  • C Sequence analysis of the entire coding region

Platelet bleeding disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
2528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Platelet bleeding disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
2528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet bleeding disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
2528
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8757
  • D Deletion/duplication analysis

Results: 1 to 20 of 60

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.