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Results: 1 to 20 of 29 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

COFFIN-SIRIS SYNDROME

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

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel

PreventionGenetics
United States
3432
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Meningiomatosis/ Multiple Meningioma NGS Panel

Medical Genomics Laboratory Department of Genetics UAB
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BrainTumorNext

Ambry Genetics
United States
7727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Coffin-Siris Syndrome Sequencing Panel

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CustomNext-Cancer

Ambry Genetics
United States
6867
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Meningioma via the SMARCE1 Gene

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

FAMILIAL MULTIPLE MENINGIOMA

Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute
Spain
16
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
6867
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Coffin-Siris Syndrome, Sequencing SMARCE1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental Retardation and Dysmorphology - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
15343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pediatric Solid Tumors Panel

Invitae
United States
9148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pediatric Nervous System/Brain Tumors Panel

Invitae
United States
3024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cancer Panel

Fulgent Genetics
United States
1735124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nervous System / Brain Cancer Comprehensive Panel

Fulgent Genetics
United States
83725
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COFFIN-SIRIS SYNDROME

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
55
  • C Sequence analysis of the entire coding region

CancerNext-Expanded

Ambry Genetics
United States
6867
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHOP Comprehensive Hereditary Cancer Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
92106
  • C Sequence analysis of the entire coding region

Invitae Nervous System/Brain Cancer Panel

Invitae
United States
3025
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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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