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Results: 1 to 20 of 55 (representing 28 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Opitz G syndrome

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

Opitz G/BBB Syndrome Type 1 via the MID1 Gene

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

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MID1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

MID1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
1173
  • C Sequence analysis of the entire coding region

Opitz-GBBB Syndrome, Sequencing MID1 Gene

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

Opitz-Frias syndrome

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
134136
  • C Sequence analysis of the entire coding region

X-linked Developmental Delay Panel

Blueprint Genetics
Finland
194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Gastrointestinal Atresia Panel

Blueprint Genetics
Finland
17
  • D Deletion/duplication analysis
  • 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

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
287
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-linked Intellectual Disabilities Sequencing

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
388
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disabilities Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
288
  • D Deletion/duplication analysis

Results: 1 to 20 of 55

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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