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Results: 141 to 155 of 155

Tests names and labsConditionsGenes, analytes, and microbesMethods

Maple syrup urine disease

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

Single gene testing BCKDHB

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Nuclear encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
37302
  • C Sequence analysis of the entire coding region

BCKDHB

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

Maple Syrup Urine Disease

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
13
  • C Sequence analysis of the entire coding region

Episodic Ataxia and Phenocopies

MGZ Medical Genetics Center
Germany
129
  • C Sequence analysis of the entire coding region

Ataxia

MGZ Medical Genetics Center
Germany
134
  • C Sequence analysis of the entire coding region

BCKDHB Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Maple Syrup Urine Disease NGS Panel

Fulgent Genetics
United States
24
  • 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

Nuclear-Mito NGS Panel

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

Maple Syrup Urine Disease Ib

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Maple Syrup Urine Disease Ib

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Diseases, 16 Genes

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
1716
  • T Targeted variant analysis

Maple syrup urine disease type 1B

Center for Human Genetics, Inc
United States
11
  • T Targeted variant analysis

Results: 141 to 155 of 155

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.