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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Luscan-Lumish syndrome, 616831, Autosomal dominant (SETD2 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

Luscan-Lumish syndrome, 616831, Autosomal dominant (SETD2 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

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

SETD2 - 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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Monogenic Obesity Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Overgrowth Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Overgrowth syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1211
  • 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

Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel.

Genologica Medica
Spain
8843
  • C Sequence analysis of the entire coding region

Monogenic Obesity panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
3840
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability

Athena Diagnostics
United States
5756
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Overgrowth and Macrocephaly Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.