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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

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

Macrocephaly Panel

Genetic Services Laboratory University of Chicago
United States
2668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-linked Intellectual Disability Panel

Blueprint Genetics
Finland
199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RLIM Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DDX3X Single Gene

Fulgent Genetics
United States
181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability (XLID) NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1114
  • C Sequence analysis of the entire coding region

X-Linked Mental Retardation

MGZ Medical Genetics Center
Germany
4113
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.