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Results: 1 to 20 of 25

Tests names and labsConditionsGenes and analytesMethods

Metatropic dysplasia - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metatropic dysplasia - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Metatropic dysplasia - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

TRPV4-related Disorders via the TRPV4 Gene

PreventionGenetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metatropic Dysplasia

Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
244144
  • C Sequence analysis of the entire coding region

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
7936
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

Single gene testing TRPV4

CeGaT GmbH
Germany
91
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMA) Panel

CeGaT GmbH
Germany
4427
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal

ARUP Laboratories, Molecular Genetics and Genomics
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)

ARUP Laboratories, Molecular Genetics and Genomics
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TRPV4 - Gene sequencing

Clinical Genetics Academic Medical Center
Netherlands
101
  • C Sequence analysis of the entire coding region

TRPV4

Fulgent Genetics
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Disease Extended NGS Panel

Fulgent Genetics
United States
11549
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Hereditary Motor Neuropathy NGS Panel

Fulgent Genetics
United States
3815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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.

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