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Results: 641 to 650 of 650

Tests names and labsConditionsGenes, analytes, and microbesMethods

ACTA1-Related Nemaline Myopathy

MGZ Medical Genetics Center
Germany
21
  • C Sequence analysis of the entire coding region

ACTA1-Related Congenital Fiber-Type Disproportion

MGZ Medical Genetics Center
Germany
11
  • C Sequence analysis of the entire coding region

Achondroplasia

MGZ Medical Genetics Center
Germany
11
  • T Targeted variant analysis

3-Methylglutaconic Aciduria Type 2

MGZ Medical Genetics Center
Germany
11
  • C Sequence analysis of the entire coding region

22q11.2 Duplication

MGZ Medical Genetics Center
Germany
11
  • I FISH-interphase
  • M FISH-metaphase
  • D Deletion/duplication analysis

22q11.2 Deletion Syndrome

MGZ Medical Genetics Center
Germany
11
  • I FISH-interphase
  • M FISH-metaphase
  • D Deletion/duplication analysis

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

MGZ Medical Genetics Center
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MERRF

MGZ Medical Genetics Center
Germany
42
  • C Sequence analysis of the entire coding region

MELAS, MT-TL1-Related

MGZ Medical Genetics Center
Germany
21
  • C Sequence analysis of the entire coding region

Mitochondrial DNA Deletion Syndromes

MGZ Medical Genetics Center
Germany
51
  • D Deletion/duplication analysis

Results: 641 to 650 of 650

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.