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Results: 1 to 15 of 15 (representing 7 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital sideroblastic anemia panel

Centogene AG - the Rare Disease Company
Germany
88
  • C Sequence analysis of the entire coding region

Myopathy, lactic acidosis, and sideroblastic anemia 2

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

YARS2 Comprehensive - Sequence & Deletion/Duplication Analysis

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

YARS2 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

YARS2 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

YARS2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

nucSEEK® Focus Nuclear Mitochondrial Gene Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
166172
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy, lactic acidosis, and sideroblastic anemia 2 (sequence analysis of YARS2 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Congenital and Distal Myopathies Panel

CeGaT GmbH
Germany
5273
  • C Sequence analysis of the entire coding region

Mitochondrial Anemia

Medizinisch Genetisches Zentrum München MGZ München
Germany
24
  • C Sequence analysis of the entire coding region

YARS2

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

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lactic Acidosis-Pyruvate NGS Panel

Fulgent Genetics
United States
9469
  • 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.

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