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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pseudohypoparathyroidism Ia, 103580, Autosomal dominant; PHP1A (Pseudohypoparathyroidism type 1A) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Invitae Hypophosphatemia Panel

Invitae
United States
2317
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Monogenic Obesity Panel

PreventionGenetics, part of Exact Sciences
United States
4352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GNAS-Related Disorders via the GNAS Gene

PreventionGenetics, part of Exact Sciences
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoparathyroidism Panel

PreventionGenetics, part of Exact Sciences
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Hypothyroidism and Thyroid Hormone Resistance Panel

PreventionGenetics, part of Exact Sciences
United States
3226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Monogenic Obesity Panel

Genetic Services Laboratory University of Chicago
United States
1750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micromelic Dysplasia NGS Panel

Fulgent Genetics
United States
14024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta and Decreased Bone Density NGS Panel

Fulgent Genetics
United States
11132
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

McCune-Albright Syndrome (GNAS Single Gene Test)

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypothyroidism and Resistance to Thyroid Hormone NGS Panel

Fulgent Genetics
United States
4119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive Osseous Heteroplasia (GNAS Single Gene Test)

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypoparathyroidism panel

Genetic Services Laboratory University of Chicago
United States
2117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GNAS Single Gene

Fulgent Genetics
United States
81
  • 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

Clinical Exome

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

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes-Obesity NGS Panel

Fulgent Genetics
United States
7356
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.