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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Custom Panel (Multiple Malformations/Anomalies Syndromes)

PreventionGenetics, part of Exact Sciences
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMARCB1 sanger sequencing and Del/Dup

Children's Hospital of Los Angeles, Center for Personalized Medicine
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OncoGeneDx Custom Panel

GeneDx
United States
10382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb Abnormalities and Reduction Defects Panel

GeneDx
United States
2476
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurofibromatosis

Asper Biogene Asper Biogene LLC
Estonia
199
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMARCB1 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Coffin-Siris syndrome

Institute of Human Genetics Cologne University
Germany
97
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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.