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Results: 1 to 20 of 229

Tests names and labsConditionsGenes and analytesMethods

EarlyPregnancy NIPT plus

EVOLVEGENE EvolveGene
United States
119
  • C Sequence analysis of the entire coding region

Microcephaly Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
7279
  • D Deletion/duplication analysis

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6470
  • C Sequence analysis of the entire coding region

Angelman Syndrome

Genetics Laboratory Shodair Children's Hospital
United States
12
  • M FISH-metaphase
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

High-Resolution Rapid Microarray (CGH and SNP)

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

Angelman syndrome

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

MECP2 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
41
  • C Sequence analysis of the entire coding region

Panoroma Non-invasive Prenatal Test

Natera, Inc.
United States
1210
  • T Targeted variant analysis

Angelman Syndrome, Methylation Studies

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • M Methylation analysis

UBE3A Gene, Full Gene Analysis

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

Angelman Syndrome

Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
Chile
11
  • D Deletion/duplication analysis
  • M Methylation analysis

Imprinting ceneter (IC) deletion analysis

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis

Angelman Syndrome Tier 2 Panel

Genetic Services Laboratory University of Chicago
United States
14
  • C Sequence analysis of the entire coding region

UPD15 testing

Genetic Services Laboratory University of Chicago
United States
11
  • U Uniparental disomy study (UPD)

UBE3A deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 229

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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