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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Invitae Hypoglycemia Panel

Invitae
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Panhypopituitarism, X-linked, 312000, X-linked; PHPX (Panhypopituitarism) (SOX3 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

Ambiguous Genitalia Panel

PreventionGenetics, Part of Exact Sciences
United States
12885
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Short stature with endocrinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Short stature with endocrinopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature with endocrinopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1614
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypogonadotropic Hypogonadism/Kallmann Panel

PreventionGenetics, Part of Exact Sciences
United States
3538
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Septo-optic Dysplasia Spectrum Panel

PreventionGenetics, Part of Exact Sciences
United States
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) Panel

PreventionGenetics, Part of Exact Sciences
United States
149158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
128139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
96105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Intellectual Disability Panel

PreventionGenetics, Part of Exact Sciences
United States
191141
  • 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

X-linked intellectual disability panel. 99-gene NGS panel.

Genologica Medica
Spain
14399
  • C Sequence analysis of the entire coding region

Combined Pituitary Hormone Deficiency Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1210
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
8260
  • C Sequence analysis of the entire coding region

Female Infertility

Asper Biogene Asper Biogene LLC
Estonia
8564
  • C Sequence analysis of the entire coding region

Intellectual Disability X-linked Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13690
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.