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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

Beta-Thalassemia

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • C Sequence analysis of the entire coding region

FGFR2-Related Craniosynostosis

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Familial Transthyretin Amyloidosis

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
21
  • C Sequence analysis of the entire coding region

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary Neuropathy with Liability to Pressure Palsies

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HFE-Associated Hereditary Hemochromatosis

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FMR1-Related Disorders

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Torsion Dystonia DYT1

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • D Deletion/duplication analysis

DRPLA - Dentatorubral-pallidoluysian Atrophy

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • T Targeted variant analysis

Charcot-Marie-Tooth Neuropathy Type 1A

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Shprintzen-Goldberg syndrome

Medical Genetics Unit Ascires Sistemas Genómicos
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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.