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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

POU1F1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Pituitary hormone deficiency, combined, 1, 613038, Autosomal recessive, Autosomal dominant; CPHD1 (Combined pituitary hormone deficiencies, genetic forms) (MLPA)

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

Pituitary hormone deficiency, combined, 1, 613038, Autosomal recessive, Autosomal dominant; CPHD1 (Combined pituitary hormone deficiencies, genetic forms) (POU1F1 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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Combined Pituitary Hormone Deficiency (CPHD) Panel

PreventionGenetics, Part of Exact Sciences
United States
99
  • 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

Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes.

Genologica Medica
Spain
4221
  • C Sequence analysis of the entire coding region

Infertility

Genologica Medica
Spain
2511
  • C Sequence analysis of the entire coding region

Pituitary hormone deficiency, combined, 1

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • D Deletion/duplication analysis
  • 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

Growth Hormone Deficiency Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1511
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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.