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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Diamond-Blackfan Anemia

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

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

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

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

Autism NGS Panel

Fulgent Genetics
United States
170106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.