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Results: 1 to 20 of 100

Tests names and labsConditionsGenes, analytes, and microbesMethods

Prenatal ccfDNA screening for fetal aneuploidy

Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec UL
Canada
31
  • D Deletion/duplication analysis

IFISH for Common Aneuploidies

Cytogenetics Laboratory University of Washington
United States
135
  • I FISH-interphase

G-Banded Chromosome Analysis

Cytogenetics Laboratory University Of Washington
United States
166
  • K Karyotyping

Down Syndrome

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • I FISH-interphase

High-Resolution Rapid Microarray (CGH and SNP)

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

Chromosome study from POC

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
45
  • K Karyotyping

Chromosome study from Amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
624
  • K Karyotyping

Blood chromosome analysis

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
723
  • K Karyotyping

FISH study in Abortus(chromosome 13,16,18,21,X and Y)

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
46
  • I FISH-interphase

FISH study in Amniotic Fluid(Chromosome 13,18,21,X,Y)

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
35
  • I FISH-interphase

IFISH for Aneuploidy (Products of Conception)

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

Preimplantation genetic screening by microarray

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
6225
  • D Deletion/duplication analysis

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

Panorama Non-invasive Prenatal Test

Natera, Inc.
United States
1210
  • T Targeted variant 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

GATA1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 100

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.