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Results: 1 to 20 of 811

Tests names and labsConditionsGenes, analytes, and microbesMethods

G-Banded Chromosome Analysis

Cytogenetics 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

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

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 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

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

IriSightâ„¢ CNV Analysis

Variantyx, Inc.
United States
22
  • D Deletion/duplication analysis

Prenatal interphase FISH

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
81
  • I FISH-interphase

Aneuploidy Panel by FISH

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
81
  • I FISH-interphase

Whole Genome Sequencing Reanalysis, WGSR

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

Results: 1 to 20 of 811

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.