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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

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)

Chromosomal Microarray

UW Cytogenetic Services Wisconsin State Laboratory of Hygiene
United States
71
  • D Deletion/duplication analysis

OGM-Dx Postnatal Whole Genome SV

Bionano Laboratories
United States
61
  • K Karyotyping

Genomic Unity® Genome-wide CNV and FMR1 Analysis

Variantyx, Inc.
United States
52
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Invitae Fragile X - Related Disorders, Diagnostic

Labcorp Genetics (formerly Invitae) LabCorp
United States
51
  • T Targeted variant analysis

Chromosomal SNP Microarry

Cytogenetics Laboratory SUNY Upstate Medical University
United States
823
  • H Detection of homozygosity

SNP Microarray Analysis (Chromosomal Microarray)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
81
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Whole Exome Sequencing

Bioarray
Spain
61
  • C Sequence analysis of the entire coding region

Familial Targeted Microarray

Ambry Genetics
United States
31
  • D Deletion/duplication analysis

SNP Array

Ambry Genetics
United States
31
  • D Deletion/duplication analysis

PGmax™ - Neonatal Crisis Panel

PreventionGenetics, part of Exact Sciences
United States
211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chromosomal Microarray Analysis

CIBIC S.A.
Argentina
51
  • D Deletion/duplication analysis

SNP Microarray

Genetics Laboratory Dayton Children's Hospital
United States
21
  • D Deletion/duplication analysis

Cytogenomic Molecular Inversion Probe Array FFPE Tissue - Products of Conception

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
151
  • K Karyotyping

Chromosome Analysis with Reflex to Genomic Microarray

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
161
  • K Karyotyping
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Whole exome sequencing

Centre for Mendelian Genomics University Medical Centre Ljubljana
Slovenia
31
  • C Sequence analysis of the entire coding region

Cytogenomic SNP Microarray

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
161
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Results: 1 to 17 of 17

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.