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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

Renal Stone/Electrolyte Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatemic rickets (sequence analysis of ENPP1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

PHOSPHATE-REGULATING ENDOPEPTIDASE

Laboratorio de Genetica Clinica SL
Spain
12
  • D Deletion/duplication analysis

PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED

Laboratorio de Genetica Clinica SL
Spain
12
  • D Deletion/duplication analysis

Liver Disease panel

Genetic Services Laboratory University of Chicago
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
113
  • C Sequence analysis of the entire coding region

Hypophosphatemic rickets, XLD (PHEX)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatemic rickets: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy NGS Panel

Fulgent Genetics
United States
450128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan and RASopathies NGS Panel

Fulgent Genetics
United States
23526
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Heart Defect NGS Panel

Fulgent Genetics
United States
377114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets Panel

Genetic Services Laboratory University of Chicago
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets Panel

Blueprint Genetics
Finland
113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia with Abnormal Mineralization Panel

Blueprint Genetics
Finland
232
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NRAS Single Gene

Fulgent Genetics
United States
1781
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy NGS Panel

Fulgent Genetics
United States
37586
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiovascular NGS Panel

Fulgent Genetics
United States
671250
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.