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Results: 161 to 174 of 174

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mental Retardation and Dysmorphology - panels

MGZ Medical Genetics Center
Germany
15343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Defects of phagocytosis Panel

CeGaT GmbH
Germany
3759
  • C Sequence analysis of the entire coding region

Bone marrow failure syndromes (Metabolism) Panel

CeGaT GmbH
Germany
54
  • C Sequence analysis of the entire coding region

Glycogen storage disease type 1b

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

SLC37A4

Institute of Human Genetics Medical University Innsbruck
Austria
21
  • S Mutation scanning of the entire coding region

SLC37A4 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial Diseases (mtDNA and 217 nuclear genes)

Asper Biogene Asper Biogene LLC
Estonia
89210
  • C Sequence analysis of the entire coding region

SLC37A4 Single Gene

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

Inherited Neutropenia panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
3940
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Clinical Exome

Fulgent Genetics
United States
51294672
  • 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

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
112116
  • C Sequence analysis of the entire coding region

Metaboseq Gene Sequencing Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
5755
  • C Sequence analysis of the entire coding region

Hypoglycemia, Hyperinsulinism, Ketone Metabolism

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
242
  • C Sequence analysis of the entire coding region

Results: 161 to 174 of 174

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.