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Results: 21 to 40 of 157

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Mucopolysaccharidosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication 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

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis II, 309900, X-linked recessive; MPS2 (Mucopolysaccharidosis type 2) (Hunter syndrome) (IDS 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

Mucopolysaccharidosis II, 309900, X-linked recessive; MPS2 (Mucopolysaccharidosis type 2) (Hunter syndrome) (Prenatal) (MLPA)

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

Mucopolysaccharidosis II, 309900, X-linked recessive; MPS2 (Mucopolysaccharidosis type 2) (Hunter syndrome) (IDS 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

Mucopolysaccharidosis II, 309900, X-linked recessive; MPS2 (Mucopolysaccharidosis type 2) (Hunter syndrome) (MLPA)

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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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

Mucopolysaccharidosis Type II

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1600
  • S Mutation scanning of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 157

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.