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Results: 1 to 20 of 58

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

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5718
  • 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
199164
  • 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, type II, 230900, 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, type II, 230900, Autosomal recessive (Gaucher disease) (MLPA)

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

Gaucher disease, type II, 230900, 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, type II, 230900, Autosomal recessive (Gaucher disease) (Prenatal) (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

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8757
  • D Deletion/duplication analysis

Invitae Lysosomal Storage Disorders Newborn Screening Panel

Invitae
United States
1910
  • D Deletion/duplication analysis

Gaucher Disease via the GBA1/GBA Gene

PreventionGenetics, part of Exact Sciences
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes.

Genologica Medica
Spain
175102
  • 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

Results: 1 to 20 of 58

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.