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Results: 1 to 20 of 81

Tests names and labsConditionsGenes, analytes, and microbesMethods

Fragile X Syndrome, Repeat Number Analysis with Reflex to Methylation Analysis

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
61
  • M Methylation analysis
  • T Targeted variant analysis

Genomind Pharmacogenetic Report

Genomind, Inc. Genomind, Inc
United States
1427
  • 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)

NGS Panel for Diamond-Blackfan Anemia

BloodGenetics
Spain
2332
  • C Sequence analysis of the entire coding region

Standard karyotype (pediatric)

Allele Diagnostics
United States
166
  • K Karyotyping

CDKL5 Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
51
  • C Sequence analysis of the entire coding region

NGS Panel for Bone Marrow failure

BloodGenetics
Spain
5769
  • C Sequence analysis of the entire coding region

Invitae Fragile X - Related Disorders, Diagnostic

Invitae
United States
51
  • T Targeted variant analysis

Chromosomal SNP Microarry

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

PGmax™ - Intellectual Disability, Epilepsy, and Autism (IDEA) Panel

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Constitutional Chromosomal Microarray Analysis

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
261
  • D Deletion/duplication analysis

Chromosome Analysis, Congenital, Blood

Mayo Clinic Laboratories Mayo Clinic
United States
111
  • K Karyotyping

Chromosomal Microarray, Congenital, Blood

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • K Karyotyping

Autism Spectrum Disorder

UW Cytogenetic Services Wisconsin State Laboratory of Hygiene
United States
11
  • I FISH-interphase
  • M FISH-metaphase
  • D Deletion/duplication analysis

SNP Microarray

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • H Detection of homozygosity

Chromosomal microarray analysis (aCGH, Cytoscan HD)

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Chromosomal microarray analysis (aCGH, Cytoscan 750K)

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Chromosomal microarray analysis (aCGH, Cytoscan 750K), familial study

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Chromosomal microarray analysis (aCGH, Cytoscan HD), familial study

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Results: 1 to 20 of 81

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.