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Results: 41 to 60 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

Short-rib thoracic dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1920
  • C Sequence analysis of the entire coding region

Asphyxiating Thoracic Dystrophy NGS Panel

Fulgent Genetics
United States
53
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel

Fulgent Genetics
United States
18815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Asphyxiating Thoracic Dystrophy , Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes

Reference Laboratory Genetics
Spain
44
  • C Sequence analysis of the entire coding region

Ellis-Van Creveld Syndrome , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
56
  • C Sequence analysis of the entire coding region

JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY)

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

Newborn Thoracic Dystrophy Type 3, Sequencing DYNC2H1 Gene

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

Abnormal/Ambiguous Genitalia Panel

Genetic Services Laboratory University of Chicago
United States
8192
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Panel

Genetic Services Laboratory University of Chicago
United States
2733
  • D Deletion/duplication analysis
  • 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

Short-rib dysplasia Panel

CeGaT GmbH
Germany
813
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DYNC2H1 Single Gene

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

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • 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
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies NGS Panel

Fulgent Genetics
United States
14197
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Asphyxiating Thoracic Dystrophy 3, DYNC2H1

GGA - Galil Genetic Analysis
Israel
11
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 60

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.