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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

Marshall-smith syndrome testing (NFIX)

Genetic Services Laboratory University of Chicago
United States
21
  • 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

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Overgrowth Syndromes Panel

Invitae
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

Marshall-Smith syndrome, 602535, Autosomal dominant; MRSHSS (Marshall-Smith syndrome) (NFIX 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

Marshall-Smith syndrome, 602535, Autosomal dominant; MRSHSS (Marshall-Smith syndrome) (NFIX 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

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, Part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sotos syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
54
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sotos syndrome and related disorders Deletion/Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sotos syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
54
  • 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

Sotos syndrome panel. Panel NGS genes: APC2, NFIX, NSD1.

Genologica Medica
Spain
53
  • 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

Sotos syndrome panel

Genologica Medica
Spain
53
  • C Sequence analysis of the entire coding region

Macrocephaly/Overgrowth Syndrome NGS Panel

Fulgent Genetics
United States
10038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes

Reference Laboratory Genetics
Spain
2016
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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.