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Results: 21 to 40 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Charcot-Marie-Tooth Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
8530
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy NGS Panel

Fulgent Genetics
United States
9329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metatropic Dysplasia (TRPV4 Single Gene Test)

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

Arthrogryposis NGS Panel

Fulgent Genetics
United States
17560
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paroxysmal Extreme Pain Disorder NGS Panel

Fulgent Genetics
United States
18553
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TRPV4-Associated Disorders: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
41
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes

Reference Laboratory Genetics
Spain
7236
  • C Sequence analysis of the entire coding region

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing Exons (5,6,8,9,11-14) TRPV4 Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing TRPV4 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel

Blueprint Genetics
Finland
228
  • D Deletion/duplication analysis
  • 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

TRPV4 Single Gene

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
17259
  • 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
542178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

Asper Biogene Asper Biogene LLC
Estonia
16674
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51274672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 45

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.