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Results: 1 to 20 of 815

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

CentoXome (Whole Exome Sequencing)

Centogene US, LLC - The Rare Disease Company
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

CentoGenome (Whole Genome Sequencing)

Centogene US, LLC - The Rare Disease Company
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoArray

Centogene US, LLC - The Rare Disease Company
United States
12
  • D Deletion/duplication analysis
  • U Uniparental disomy study (UPD)

CentoArray

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • U Uniparental disomy study (UPD)

CentoGenome (Whole Genome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoXome (Whole Exome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

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

Bionano Laboratories
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)

Results: 1 to 20 of 815

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.