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Results: 41 to 57 of 57

Tests names and labsConditionsGenes, analytes, and microbesMethods

B-Positive Severe Combined Immunodeficiency NGS Panel

Fulgent Genetics
United States
3826
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency NGS Panel

Fulgent Genetics
United States
33090
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oxidative Phosphorylation Disorders NGS Panel

Fulgent Genetics
United States
416235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metaphyseal Dysplasia NGS Panel

Fulgent Genetics
United States
3710
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE (CARTILAGE-HAIR HYPOPLASIA)

Laboratorio de Genetica Clinica SL
Spain
10
  • E Sequence analysis of select exons

CCDC107 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metaphyseal dysplasia without hypotrichosis

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel

CeGaT GmbH
Germany
2955
  • C Sequence analysis of the entire coding region

Cartilage-Hair Hypoplasia Dwarfism (RMRP) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • T Targeted variant analysis

RMRP Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RMRP Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 57 of 57

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.