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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

Obesity with impaired prohormone processing, 600955, Isolated cases (Obesity due to prohormone convertase I deficiency) (PCSK1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Obesity with impaired prohormone processing

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

Invitae Hypogonadotropic Hypogonadism Panel

Invitae
United States
6746
  • D Deletion/duplication analysis

Invitae Hypoglycemia Panel

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

Invitae Monogenic Obesity Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Monogenic Obesity Panel

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

Hypogonadotropic Hypogonadism/Kallmann Panel

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

Non-Syndromic Monogenic Obesity via the PCSK1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Diarrhea Seq + Del/Dup Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1821
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Del/Dup Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1821
  • D Deletion/duplication analysis

Congenital Diarrhea Seq Analysis

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1821
  • C Sequence analysis of the entire coding region

Disorders of Sex Development (DSD) Panel

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

Disorders of Sex Development (DSD) and Infertility Panel

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

Male Infertility Panel

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

Female Infertility Panel

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

Non-Syndromic Monogenic Obesity Panel

PreventionGenetics
United States
611
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PCSK1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

PCSK1 Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region

Monogenic obesity panel. 36-gene NGS panel.

Genologica Medica
Spain
5536
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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.

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