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Results: 1 to 20 of 787

Tests names and labsConditionsGenes, analytes, and microbesMethods

Whole Exome Sequencing (CentoXome GOLD)

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

Whole Genome Sequencing (CentoGenome)

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

Whole Exome Sequencing (CentoXome PLATINUM)

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

G-Banded Chromosome Analysis

Cytogenetics and Genomics Laboratory University of Washington
United States
166
  • K Karyotyping

Exome Sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Prenatal chromosomal abnormalities

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
41
  • K Karyotyping

Uniparental Disomy

Mayo Clinic Laboratories Mayo Clinic
United States
61
  • U Uniparental disomy study (UPD)

Karyotype

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • K Karyotyping

qPCR

Clinical Cytogenetics Laboratory LabCorp
United States
11
  • T Targeted variant analysis

NextStepDx PLUS

Lineagen, Inc
United States
51
  • C Sequence analysis of the entire coding region

SNP based chromosomal microarray

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
51
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

Comparative genomic hybridization (aCGH-SNP)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
41
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • 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

IFISH for Aneuploidy (Products of Conception)

Cytogenetics and Genomics Laboratory University of Washington
United States
127
  • I FISH-interphase

Rapid microarray (CGH and SNP)

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

Standard karyotype (pediatric)

Allele Diagnostics
United States
166
  • K Karyotyping

Chromosomal microarray

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2351
  • M FISH-metaphase
  • K Karyotyping
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

Chromosomal microarray

Michigan Medical Genetics Laboratories University of Michigan
United States
181
  • D Deletion/duplication analysis

Panorama Non-invasive Prenatal Test

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

FirstStepDx PLUS

Lineagen, Inc
United States
41
  • K Karyotyping

Results: 1 to 20 of 787

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.