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Results: 21 to 40 of 122

Tests names and labsConditionsGenes, analytes, and microbesMethods

FusionPlex Solid Tumor Panel

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
3114
  • R RNA analysis

Hyperinsulinemic hypoglycemia, familial, 5, 609968, Autosomal dominant; HHF5 (Hyperinsulinism due to INSR deficiency) (INSR gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hyperinsulinemic hypoglycemia, familial, 5, 609968, Autosomal dominant; HHF5 (Hyperinsulinism due to INSR deficiency) (INSR gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Leprechaunism, 246200, Autosomal recessive (Leprechaunism) (DONOHUE SYNDROME) (INSR gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Leprechaunism, 246200, Autosomal recessive (Leprechaunism) (DONOHUE SYNDROME) (INSR gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (INSR gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (Insulin-resistance syndrome type A) (INSR gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

ProvSeq 523

Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health
United States
1523
  • C Sequence analysis of the entire coding region

Comprehensive Neonatal Diabetes Mutation Analysis

Genetic Services Laboratory University of Chicago
United States
533
  • D Deletion/duplication analysis
  • M Methylation analysis
  • C Sequence analysis of the entire coding region

Monogenic Diabetes Panel

Genetic Services Laboratory University of Chicago
United States
1469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Comprehensive Hematologic Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2215
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Comprehensive Solid Tumor Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2315
  • D Deletion/duplication analysis
  • R RNA 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

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11293
  • C Sequence analysis of the entire coding region

Hyperinsulinism familial (WES based NGS panel of 20 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
120
  • C Sequence analysis of the entire coding region

Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
162
  • C Sequence analysis of the entire coding region

Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1104
  • C Sequence analysis of the entire coding region

Diabetes Panel

CGC Genetics Unilabs
Portugal
176
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 122

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.