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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Diamond-Blackfan Anemia

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

CMA-Affymetrix 750K

Juno Genomics Hangzhou Juno Genomics, Inc
China
42
  • D Deletion/duplication analysis

UBE3A Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
21
  • C Sequence analysis of the entire coding region

MEF2C Gene sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
21
  • C Sequence analysis of the entire coding region

Chromosomal microarray

Michigan Medical Genetics Laboratories University of Michigan
United States
181
  • D Deletion/duplication analysis

SHANK3 Gene sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
21
  • 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

Autism Spectrum Disorders via the KATNAL2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autism Spectrum Disorders via the CACNA2D3 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SNP microarray (Reveal)

Clinical Cytogenetics Laboratory LabCorp
United States
31
  • D Deletion/duplication analysis
  • H Detection of homozygosity

InSight (FISH for 13, 18, 21, X & Y)

Integrated Genetics Cytogenetics and Biochemistry Laboratory
United States
41
  • I FISH-interphase

Chromosome Analysis

Integrated Genetics Cytogenetics and Biochemistry Laboratory
United States
41
  • K Karyotyping

Biochemistry 3-Plex Autism Panel

Baylor Genetics
United States
11
  • A Analyte

Biochemistry 5-Plex Autism Panel

Baylor Genetics
United States
11
  • A Analyte

Prader-Willi/Angelman Syndrome with Methylation Analysis NGS Panel

Fulgent Genetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel

Fulgent Genetics
United States
24478
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ALDH1A3 Single Gene

Fulgent Genetics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SNRPN Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.