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Results: 21 to 40 of 103

Tests names and labsConditionsGenes, analytes, and microbesMethods

Osteopetrosis and Dense bone dysplasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Lysosomal Storage Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8757
  • D Deletion/duplication analysis

Invitae Mucopolysaccharidoses Plus (MPS+) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12065
  • D Deletion/duplication analysis

CTSK Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

CTSK Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CTSK Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

CTSK Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq® Metabolic: Lysosomal Storage Disorders Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
159
  • C Sequence analysis of the entire coding region

Skeletal Disorders Panel

Baylor Genetics
United States
1354
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Panel (Female)

Baylor Genetics
United States
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Male)

Baylor Genetics
United States
1382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Plus Panel (Female)

Baylor Genetics
United States
1446
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Plus Panel (Male)

Baylor Genetics
United States
1401
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 103

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.